Federico Mayor Zaragoza presidirá el 1 de abril por primera vez el Consejo de Participación de Sierra Nevada

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El ex director general de la Unesco Federico Mayor Zaragoza, nombrado el pasado mes de enero presidente del Consejo de Participación del Espacio Natural de Sierra Nevada por la Junta de Andalucía, estrenará su cargo el 1 de abril durante el desarrollo de la próxima reunión del órgano rector del Parque Nacional.

De esta manera y tras la jubilación del anterior presidente, José María Quintana, en la última reunión celebrada el 16 de diciembre de 2010, Mayor Zaragoza presidirá la reunión del Consejo de Participación el 1 de abril, según ha informado a Europa Press la Fundación Cultura de la Paz, organismo que también preside el barcelonés.

En 1987 fue designado director general de la Unesco, cargo para el que fue reelegido en 1993. Este organismo de Naciones Unidas es el encargado de la red mundial de Reservas de Biosfera, de la que Sierra Nevada forma parte desde 1986. En 2008 fue nombrado Hijo Predilecto de Andalucía.

Mayor Zaragoza, en declaraciones a Europa Press, expresó tras conocer el nombramiento que afronta esta nueva responsabilidad ofreciendo independencia y diálogo con todas las partes para «inventar» el futuro y porvenir de «uno de los espacios privilegiados de la Tierra».

En referencia al nuevo reto que se le plantea en su dilatada trayectoria profesional, el también doctor en Farmacia por la Universidad Complutense de Madrid, señaló que la primera tarea que tiene por delante es «saber dónde estamos y conocer lo que se ha logrado», que es «mucho», gracias a la labor de su antecesor, el profesor José María Quintana. Además, indicó que la siguiente labor será definir cuales son los grandes objetivos a alcanzar, que para su ejecución cuenta excelentes colaboradores tanto en la Consejería de Medio Ambiente y los investigadores de la Universidad de Granada.

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Investigadores de la UGR determinan el gen de enfermedades responsables del síndrome de muerte súbita cardiaca

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Científicos del Hospital Universitario Virgen de las Nieves y de la Universidad de Granada (UGR) han determinado qué mutaciones del gen denominado KCNH2 son las más frecuentes en el Síndrome de QT largo (SQTL), un trastorno de los canales iónicos cardíacos que afecta aproximadamente a una de cada 2.500 personas y que puede causar muerte súbita por arritmias ventriculares.

Esta enfermedad, explican los expertos, suele afectar a niños y adolescentes y, en ocasiones, se confunde con cuadros convulsivos, diagnosticándose erróneamente como epilepsia.

No obstante, hasta ahora, se han descrito cientos de mutaciones en doce genes de canales de sodio y potasio principalmente. Así, aproximadamente el 75 por ciento de las mutaciones descritas en el SQTL se encuentran en tres genes, el KCNQ1, el más frecuente en otras poblaciones (canal de potasio), el KCNH2 (canal de potasio), y el SCN5A (canal de sodio).

Para llevar a cabo este estudio, los investigadores granadinos trabajaron con nueve pacientes con criterios diagnósticos de Síndrome de QT largo y 4 pacientes con fibrilación ventricular idiopática (pacientes recuperados de una parada cardíaca en los que no se llega al diagnóstico de la enfermedad responsable).

Los científicos encontraron mutaciones en siete pacientes con Síndrome de QT largo y en dos con fibrilación ventricular idiopática. El 71,4 por ciento de las mutaciones fueron en KCNH2 y el 28,6 por ciento en SCN5A. Sin embargo, no hallaron ninguna mutación en KCNQ1.

Sólo dos de estas mutaciones estaban previamente descritas. De hecho, una de ellas se ha estudiado ‘in vitro’ en un vector celular demostrando definitivamente su implicación en la etiología de la enfermedad, lo que supone una gran aportación a este campo de investigación, en palabras de los autores del estudio.

«El gran interés que tiene el test genético en el abordaje de estas enfermedades radica en la posibilidad de identificar a sujetos afectados pero que presenten poca expresión fenotípica, esto es, que la enfermedad no se manifieste de forma evidente en el electrocardiograma o las pruebas de imagen», señalan.

DETECTAR A FAMILIARES PORTADORES

En su opinión, esto incrementa las posibilidades de detectar a familiares portadores de la misma enfermedad pero con resultados poco concluyentes en el resto de pruebas, lo que creen que representa un gran avance, dado que estas enfermedades genéticas pueden ser hereditarias.

Pese a lo significativo de estos resultados, los investigadores advierten de que su trabajo constituye «una experiencia preliminar e inicial» en España que describe el perfil genotípico de una pequeña muestra de pacientes. «Es necesaria una colaboración multicéntrica para obtener grupos más amplios y conclusiones extrapolables a la población general», concluyen.

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Investigadores españoles determinan el gen de las enfermedades responsables del síndrome de muerte súbita cardiaca

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Científicos del Hospital Universitario Virgen de las Nieves y de la Universidad de Granada han determinado qué mutaciones del gen denominado KCNH2 son las más frecuentes en el Síndrome de QT largo (SQTL), un trastorno de los canales iónicos cardíacos que afecta aproximadamente a una de cada 2.500 personas y que puede causar muerte súbita por arritmias ventriculares.

Esta enfermedad, explican los expertos, suele afectar a niños y adolescentes y, en ocasiones, se confunde con cuadros convulsivos, diagnosticándose erróneamente como epilepsia.

No obstante, hasta ahora, se han descrito cientos de mutaciones en doce genes de canales de sodio y potasio principalmente. Así, aproximadamente el 75 por ciento de las mutaciones descritas en el SQTL se encuentran en tres genes, el KCNQ1, el más frecuente en otras poblaciones (canal de potasio), el KCNH2 (canal de potasio), y el SCN5A (canal de sodio).

Para llevar a cabo este estudio, los investigadores granadinos trabajaron con nueve pacientes con criterios diagnósticos de Síndrome de QT largo y 4 pacientes con fibrilación ventricular idiopática (pacientes recuperados de una parada cardíaca en los que no se llega al diagnóstico de la enfermedad responsable).

Los científicos encontraron mutaciones en siete pacientes con Síndrome de QT largo y en dos con fibrilación ventricular idiopática. El 71,4 por ciento de las mutaciones fueron en KCNH2 y el 28,6 por ciento en SCN5A. Sin embargo, no hallaron ninguna mutación en KCNQ1.

Sólo dos de estas mutaciones estaban previamente descritas. De hecho, una de ellas se ha estudiado ‘in vitro’ en un vector celular demostrando definitivamente su implicación en la etiología de la enfermedad, lo que supone una gran aportación a este campo de investigación, en palabras de los autores del estudio.

«El gran interés que tiene el test genético en el abordaje de estas enfermedades radica en la posibilidad de identificar a sujetos afectados pero que presenten poca expresión fenotípica, esto es, que la enfermedad no se manifieste de forma evidente en el electrocardiograma o las pruebas de imagen», señalan.

DETECTAR A FAMILIARES PORTADORES

En su opinión, esto incrementa las posibilidades de detectar a familiares portadores de la misma enfermedad pero con resultados poco concluyentes en el resto de pruebas, lo que creen que representa un gran avance, dado que estas enfermedades genéticas pueden ser hereditarias.

Pese a lo significativo de estos resultados, los investigadores advierten de que su trabajo constituye «una experiencia preliminar e inicial» en España que describe el perfil genotípico de una pequeña muestra de pacientes. «Es necesaria una colaboración multicéntrica para obtener grupos más amplios y conclusiones extrapolables a la población general», concluyen.

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‘Es importante ir a las elecciones con un perfil netamente de izquierdas’

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El parlamentario presenta hoy en Granada su libro ‘La izquierda que se busca’, un conjunto de reflexiones sobre la crisis y el presente y futuro político del socialismo

Es diputado, pero le ha dado tiempo a escribir un libro y hoy lo presenta en Granada, en concreto en la sala que para ese tipo de actos tiene la Universidad de Granada en su librería La Bóveda. La izquierda que se busca, que así se llama el libro, es un conjunto de reflexiones de un socialista convencido de sus ideas, no siempre cómodo para quienes dirigen su partido -pertenece a la corriente Izquierda Socialista- y que no se resigna a pensar que la crisis no tenga remedio.

-¿Qué le impulsó a publicar el libro justamente ahora? ¿Consideró conveniente que viera la luz en estos momentos por algún motivo en especial?

-El libro tiene un subtítulo que indica que son reflexiones sobre políticas en crisis; es decir, aplicadas en momentos de crisis y a veces cuestionadas por la crisis misma. El material recogido son textos, algunos inéditos, escritos en los dos primeros años de la actual legislatura, cuando el presidente del Gobierno anunciaba en el Congreso el plan de ajuste que a partir de entonces se aplica. Lo que pensábamos que era una situación que reclamaba la aplicación de políticas socialdemócratas, se nos reveló como un momento en que las presiones económicas abrían el camino para que los neoliberales se impusieran de nuevo. Todo ello supone un gran desconcierto para la izquierda y ahí está toda Europa para constatarlo. Desubicada, la izquierda se busca a sí misma y es buscada por amplios sectores de la ciudadanía. A eso responde el libro.

-¿Hasta qué punto es posible transformar un partido como el PSOE? Dicho de otro modo: ¿Va a dejar que se encuentre esa izquierda que se busca?

-El PSOE es un partido grande y con mucha historia detrás. Su recorrido histórico avala su capacidad para ponerse al día. Su tamaño hace compleja la tarea de renovación, y no me refiero meramente a los cambios de dirigentes. La clave está en saber interpretar las circunstancias y problemas de una nueva sociedad, hilvanando su discurso y su acción política con el hilo rojo de una tradición socialista que viene de muy atrás y continúa proyectándose al futuro y proyectando futuro. Sigo pensando que el PSOE tiene capacidad de autotransformación, por más que también haya factores que la retarden.

-¿Esa izquierda va a encontrarse antes de las elecciones de 2012 o hará falta que reflexione sobre su futuro en la oposición?

-Es importante concurrir a las próximas elecciones con un perfil netamente de izquierdas. También es cierto que la tarea de reconstruir un proyecto socialista consistente se presenta con un recorrido más largo que el que marcan las citas electorales. No olvidemos tampoco que la reconfiguración de la izquierda viene de más lejos que la presente crisis, la cual no ha hecho sino agudizar la necesidad del proceso de reconstrucción en el que estamos. Y el PSOE tendrá que afrontarlo allá donde lo pongan los ciudadanos.

-No oculta que el PSOE ha cometido errores y de hecho los critica. ¿Pero le parece que está recibiendo un castigo excesivo, que se tiende a culpar al Gobierno absolutamente de todo?

-Es verdad que existe esa tendencia. Lo paradójico es que la aliente una derecha política ayuna de propuestas serias para afrontar la crisis y que opera según marca una derecha mediática con notable poder. Ésta activa la correa de transmisión respecto de fuertes poderes económicos hoy interesados en recortar el Estado de bienestar y en retroceder en lo que ha supuesto nuestro Estado de las Autonomías.

-Defiende la ideología como base de toda política. Con la mano en el corazón: ¿Qué parte se pierde por el camino? ¿O sólo se pierde ingenuidad?

-Ni las convicciones ni la elaboración teórica que las acompañe son, personal o colectivamente, un traje compacto y dogmático. Tampoco deben ser un traje de quita y pon. La cuestión es cómo se articulan principios, proyecto político y luego estrategia y medidas concretas. Si el tacticismo se traga a la estrategia, malo para la acción política. Si el proyecto acaba en contradicción con los principios, estamos perdidos. No es malo salir de la ingenuidad -es desastroso permanecer en ella-; lo malo es instalarse en el cinismo, y eso siempre acecha en el ámbito del poder.

-Cuando se pasa de las palabras sobre el papel, de los ideales y de los altos objetivos, a la política de confrontación y de busca sistemática del daño al rival, ¿qué sensación le queda?

-Hay que pretender la mayor coherencia entre lo que se dice y lo que se hace. En el largo trecho de la política necesitamos consensos y también dar espacio y un tratamiento adecuado a los disensos. Otra cosa son ciertas batallas epidérmicas que sólo reportan desgaste mutuo de las fuerzas políticas y cansancio para una ciudadanía condenada a un espectáculo aburrido. La conflictividad innecesaria oculta además los conflictos de fondo. A la izquierda no nos conviene y la derecha, que lo sabe, lo explota. A veces caemos en la trampa.

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Drug Encapsulation And Gene Therapies Use New Data Obtained On Liposomes

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University of Granada scientists and the Spanish Higher Institute for Scientific Research (CSIC) have made significant progress in understanding lipid membranes, which are extensively employed in the development of cosmetic and drug products, and which have potential application in the field of nanotechnology.

Phospholipid vesicles (liposomes) are colloidal systems that arise considerable interest from the pharmaceutical, cosmetic and food industry, since they are biocompatible in protein, nucleic acid, drug, etc encapsulation. Further, from a scientific perspective, liposomes are considered a model system of cell membranes that have been implemented in the study of biological transport processes through cell membranes, as well as in the study of aggregation processes induced by biological substances, etc.

To develop products of biotechnological interest, understanding thoroughly the electrostatic properties of these membranes is necessary. This was the purpose of Alberto Martín Molina and César Rodríguez Beas, from the Department of Applied Physics of the University of Granada, and Jordi Faraudo from the Instituto de Ciencias de Materiales in Barcelona (CSIC), authors of a study recently published in the journal Physical Review Letters (Vol. 104; pp 168103 (2010). 104, pp 168103 (2010)).

Inverting its Electrostatic Charge

This study discloses why certain lipid membranes can invert their surface electrostatic charge, that is, why these membranes have negative charge, but they can function as positive charge material in specific circumstances. This type of membranes are extensively employed in gene therapies.

Such behaviour is due to the fact that the interphase of these membranes in water is soft, permeable and highly hydrated. «Such environment attracts small objects with significant electric charge. These membranes tend to gather in large groups acquiring electric charge», researchers state. For the purpose of this study, electrophoresis experiments and computer-based simulations were conducted. Such trials were made using a supercomputer belonging to the Spanish Supercomputing Centre, since these trials required a long time and high calculation performance.

After a sustained period of several months, researchers obtained revealing results from simulations, which allowed them to prepare a new inversion mechanism for their experimental system. This mechanism is as follows: phospholipid membranes have the ability to absorb lanthanum cations, which go from being associated to the solution water molecules to associating to the membrane atoms.

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Researchers identify the genotype of disorders causing cardiac sudden death syndrome

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Researchers from the Hospital Virgen de las Nieves of the University of Granada have identified the most frequent mutations in the gene KCNH2 in patients with long QT syndrome.

Long Qt syndrome is a disorder of cardiac ionic channels that approximately affects one in every 2,500 people and may cause torsade de pointes episodes, which can trigger sudden death. This condition usually affects children and adolescents, and it is occasionally mistaken for convulsions, leading to a misdiagnosis of epilepsy.

So far, hundreds of mutations have been found in twelve genes of sodium and potassium channels. Thus, approximately 75% of the mutations in cases of LQTS are located in three genes: KCNQ1, the most frequent in other sectors of the population (potassium channel), KCNH2 (potassium channel) and SCN5A (sodium channel).

To carry out this study, researchers selected nine patients who met the diagnostic criteria for long QT syndrome, and four patients with ventricular fibrillation (cardiac arrest produced in the absence of any identifiable causes). These patients and their first-degree relatives were examined in the Arrhythmia Assessment Unit of the Hospital Virgen de las Nieves in Granada, Spain.

Genetic Study

Mutations were found in seven patients with long QT syndrome and in two patients with idiopathic ventricular fibrillation. Overall, 71.4% of mutations were in the gene KCNH2 and 28.6% were in SCN5A. No mutations were found in the gene KCNQ1. Only two mutations had been previously observed.

In fact, one of these mutations was studied in vitro, and their involvement in the etiology of the disease was definitely proved, which is a major contribution to this field of research (see picture). This test was conducted with the collaboration of the Department of Pharmacology of the Universidad Complutense of Madrid.

Of the 19 relatives studied, six were carriers of the mutation. Unlike previous studies, the study conducted in Granada proved that genetic testing had a high level of sensitivity for the diagnosis of patients with long QT syndrome, and that the most frequently mutated gene was KCNQ1. These results differ from the results obtained in studies with other populations, where the most frequently mutated gene was KCNQ1.

This study -published in the Revista Española de Cardiología- was conducted by Juan Jiménez Jáimez, Luis Tercedor Sánchez, Miguel Álvarez López, Ricardo Sebastián Galdeano (Hospital Virgen de las Nieves), Esther Martínez Espín and José Antonio Lorente Acosta (Department of Legal Medicine and Toxicology of the University of Granada). Genetic analysis was performed at the Laboratory of Genetic Analysis Lorgen in Granada PTS.

«What it is important about this study is that it proves that genetic testing can help in diagnosing LQTS in patients without any phenotypic expression, that is, in patients with normal results in electrocardiogram and medical imaging tests» -researchers state. «This increases the chances of detecting relatives who may be carriers of the same disease but who obtain inconclusive results in other tests, which represents an important breakthrough, since these genetic diseases can be hereditary».

Although the results obtained are of great significance, the researchers warn about the fact that «this study is just an initial experience in our country, and it only describes the genotypic profile of a small sample of patients. A multicenter study will be necessary to obtain larger groups and draw conclusions that can be extrapolated to the general population» -researchers state.

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Researchers identify the genotype of disorders causing cardiac sudden death syndrome

Escrito por

Researchers from the Hospital Virgen de las Nieves of the University of Granada have identified the most frequent mutations in the gene KCNH2 in patients with long QT syndrome. Long Qt syndrome is a disorder of cardiac ionic channels that approximately affects one in every 2,500 people and may cause torsade de pointes episodes, which can trigger sudden death. This condition usually affects children and adolescents, and it is occasionally mistaken for convulsions, leading to a misdiagnosis of epilepsy.

So far, hundreds of mutations have been found in twelve genes of sodium and potassium channels. Thus, approximately 75% of the mutations in cases of LQTS are located in three genes: KCNQ1, the most frequent in other sectors of the population (potassium channel), KCNH2 (potassium channel) and SCN5A (sodium channel).

To carry out this study, researchers selected nine patients who met the diagnostic criteria for long QT syndrome, and four patients with ventricular fibrillation (cardiac arrest produced in the absence of any identifiable causes). These patients and their first-degree relatives were examined in the Arrhythmia Assessment Unit of the Hospital Virgen de las Nieves in Granada, Spain.

Genetic Study

Mutations were found in seven patients with long QT syndrome and in two patients with idiopathic ventricular fibrillation. Overall, 71.4% of mutations were in the gene KCNH2 and 28.6% were in SCN5A. No mutations were found in the gene KCNQ1. Only two mutations had been previously observed.

In fact, one of these mutations was studied in vitro, and their involvement in the etiology of the disease was definitely proved, which is a major contribution to this field of research (see picture). This test was conducted with the collaboration of the Department of Pharmacology of the Universidad Complutense of Madrid.

Of the 19 relatives studied, six were carriers of the mutation. Unlike previous studies, the study conducted in Granada proved that genetic testing had a high level of sensitivity for the diagnosis of patients with long QT syndrome, and that the most frequently mutated gene was KCNQ1. These results differ from the results obtained in studies with other populations, where the most frequently mutated gene was KCNQ1.

This study -published in the Revista Española de Cardiología- was conducted by Juan Jiménez Jáimez, Luis Tercedor Sánchez, Miguel Álvarez López, Ricardo Sebastián Galdeano (Hospital Virgen de las Nieves), Esther Martínez Espín and José Antonio Lorente Acosta (Department of Legal Medicine and Toxicology of the University of Granada). Genetic analysis was performed at the Laboratory of Genetic Analysis Lorgen in Granada PTS.

«What it is important about this study is that it proves that genetic testing can help in diagnosing LQTS in patients without any phenotypic expression, that is, in patients with normal results in electrocardiogram and medical imaging tests» –researchers state. «This increases the chances of detecting relatives who may be carriers of the same disease but who obtain inconclusive results in other tests, which represents an important breakthrough, since these genetic diseases can be hereditary».

Although the results obtained are of great significance, the researchers warn about the fact that «this study is just an initial experience in our country, and it only describes the genotypic profile of a small sample of patients. A multicenter study will be necessary to obtain larger groups and draw conclusions that can be extrapolated to the general population» –researchers state.

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Researchers identify the genotype of disorders causing cardiac sudden death syndrome

Escrito por

Researchers from the Hospital Virgen de las Nieves of the University of Granada have identified the most frequent mutations in the gene KCNH2 in patients with long QT syndrome.

Long Qt syndrome is a disorder of cardiac ionic channels that approximately affects one in every 2,500 people and may cause torsade de pointes episodes, which can trigger sudden death. This condition usually affects children and adolescents, and it is occasionally mistaken for convulsions, leading to a misdiagnosis of epilepsy.

So far, hundreds of mutations have been found in twelve genes of sodium and potassium channels. Thus, approximately 75% of the mutations in cases of LQTS are located in three genes: KCNQ1, the most frequent in other sectors of the population (potassium channel), KCNH2 (potassium channel) and SCN5A (sodium channel).

To carry out this study, researchers selected nine patients who met the diagnostic criteria for long QT syndrome, and four patients with ventricular fibrillation (cardiac arrest produced in the absence of any identifiable causes). These patients and their first-degree relatives were examined in the Arrhythmia Assessment Unit of the Hospital Virgen de las Nieves in Granada, Spain.

Genetic Study

Mutations were found in seven patients with long QT syndrome and in two patients with idiopathic ventricular fibrillation. Overall, 71.4% of mutations were in the gene KCNH2 and 28.6% were in SCN5A. No mutations were found in the gene KCNQ1. Only two mutations had been previously observed.

In fact, one of these mutations was studied in vitro, and their involvement in the etiology of the disease was definitely proved, which is a major contribution to this field of research (see picture). This test was conducted with the collaboration of the Department of Pharmacology of the Universidad Complutense of Madrid.

Of the 19 relatives studied, six were carriers of the mutation. Unlike previous studies, the study conducted in Granada proved that genetic testing had a high level of sensitivity for the diagnosis of patients with long QT syndrome, and that the most frequently mutated gene was KCNQ1. These results differ from the results obtained in studies with other populations, where the most frequently mutated gene was KCNQ1.

This study -published in the Revista Española de Cardiología- was conducted by Juan Jiménez Jáimez, Luis Tercedor Sánchez, Miguel Álvarez López, Ricardo Sebastián Galdeano (Hospital Virgen de las Nieves), Esther Martínez Espín and José Antonio Lorente Acosta (Department of Legal Medicine and Toxicology of the University of Granada). Genetic analysis was performed at the Laboratory of Genetic Analysis Lorgen in Granada PTS.

«What it is important about this study is that it proves that genetic testing can help in diagnosing LQTS in patients without any phenotypic expression, that is, in patients with normal results in electrocardiogram and medical imaging tests» –researchers state. «This increases the chances of detecting relatives who may be carriers of the same disease but who obtain inconclusive results in other tests, which represents an important breakthrough, since these genetic diseases can be hereditary».

Although the results obtained are of great significance, the researchers warn about the fact that «this study is just an initial experience in our country, and it only describes the genotypic profile of a small sample of patients. A multicenter study will be necessary to obtain larger groups and draw conclusions that can be extrapolated to the general population» –researchers state.

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Researchers Identify The Genotype Of Disorders Causing Cardiac Sudden Death Syndrome

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Long QT syndrome approximately affects one in every 2,500 people ­-mainly young people. It can cause torsade de pointes episodes, which can trigger sudden death. This study was conducted by researchers of the Hospital Virgen de las Nieves of the University of Granada. The genetic analyses were performed by the laboratory Lorgen in the Health Science Technology Park of Granada

Researchers from the Hospital Virgen de las Nieves of the University of Granada have identified the most frequent mutations in the gene KCNH2 in patients with long QT syndrome.

Long Qt syndrome is a disorder of cardiac ionic channels that approximately affects one in every 2,500 people and may cause torsade de pointes episodes, which can trigger sudden death. This condition usually affects children and adolescents, and it is occasionally mistaken for convulsions, leading to a misdiagnosis of epilepsy.

So far, hundreds of mutations have been found in twelve genes of sodium and potassium channels. Thus, approximately 75% of the mutations in cases of LQTS are located in three genes: KCNQ1, the most frequent in other sectors of the population (potassium channel), KCNH2 (potassium channel) and SCN5A (sodium channel).

To carry out this study, researchers selected nine patients who met the diagnostic criteria for long QT syndrome, and four patients with ventricular fibrillation (cardiac arrest produced in the absence of any identifiable causes). These patients and their first-degree relatives were examined in the Arrhythmia Assessment Unit of the Hospital Virgen de las Nieves in Granada, Spain.

Genetic Study

Mutations were found in seven patients with long QT syndrome and in two patients with idiopathic ventricular fibrillation. Overall, 71.4% of mutations were in the gene KCNH2 and 28.6% were in SCN5A. No mutations were found in the gene KCNQ1. Only two mutations had been previously observed.

In fact, one of these mutations was studied in vitro, and their involvement in the etiology of the disease was definitely proved, which is a major contribution to this field of research (see picture). This test was conducted with the collaboration of the Department of Pharmacology of the Universidad Complutense of Madrid.

Of the 19 relatives studied, six were carriers of the mutation. Unlike previous studies, the study conducted in Granada proved that genetic testing had a high level of sensitivity for the diagnosis of patients with long QT syndrome, and that the most frequently mutated gene was KCNQ1. These results differ from the results obtained in studies with other populations, where the most frequently mutated gene was KCNQ1.

This study -published in the Revista Española de Cardiología- was conducted by Juan Jiménez Jáimez, Luis Tercedor Sánchez, Miguel Álvarez López, Ricardo Sebastián Galdeano (Hospital Virgen de las Nieves), Esther Martínez Espín and José Antonio Lorente Acosta (Department of Legal Medicine and Toxicology of the University of Granada). Genetic analysis was performed at the Laboratory of Genetic Analysis Lorgen in Granada PTS.

“What it is important about this study is that it proves that genetic testing can help in diagnosing LQTS in patients without any phenotypic expression, that is, in patients with normal results in electrocardiogram and medical imaging tests” –researchers state. “This increases the chances of detecting relatives who may be carriers of the same disease but who obtain inconclusive results in other tests, which represents an important breakthrough, since these genetic diseases can be hereditary”.

Although the results obtained are of great significance, the researchers warn about the fact that “this study is just an initial experience in our country, and it only describes the genotypic profile of a small sample of patients. A multicenter study will be necessary to obtain larger groups and draw conclusions that can be extrapolated to the general population” –researchers state.

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Researchers identify the genotype of disorders causing cardiac sudden death syndrome

Escrito por

Researchers from the Hospital Virgen de las Nieves of the University of Granada have identified the most frequent mutations in the gene KCNH2 in patients with long QT syndrome.

Long Qt syndrome is a disorder of cardiac ionic channels that approximately affects one in every 2,500 people and may cause torsade de pointes episodes, which can trigger sudden death. This condition usually affects children and adolescents, and it is occasionally mistaken for convulsions, leading to a misdiagnosis of epilepsy.

So far, hundreds of mutations have been found in twelve genes of sodium and potassium channels. Thus, approximately 75% of the mutations in cases of LQTS are located in three genes: KCNQ1, the most frequent in other sectors of the population (potassium channel), KCNH2 (potassium channel) and SCN5A (sodium channel).

To carry out this study, researchers selected nine patients who met the diagnostic criteria for long QT syndrome, and four patients with ventricular fibrillation (cardiac arrest produced in the absence of any identifiable causes). These patients and their first-degree relatives were examined in the Arrhythmia Assessment Unit of the Hospital Virgen de las Nieves in Granada, Spain.

Genetic Study

Mutations were found in seven patients with long QT syndrome and in two patients with idiopathic ventricular fibrillation. Overall, 71.4% of mutations were in the gene KCNH2 and 28.6% were in SCN5A. No mutations were found in the gene KCNQ1. Only two mutations had been previously observed.

In fact, one of these mutations was studied in vitro, and their involvement in the etiology of the disease was definitely proved, which is a major contribution to this field of research (see picture). This test was conducted with the collaboration of the Department of Pharmacology of the Universidad Complutense of Madrid.

Of the 19 relatives studied, six were carriers of the mutation. Unlike previous studies, the study conducted in Granada proved that genetic testing had a high level of sensitivity for the diagnosis of patients with long QT syndrome, and that the most frequently mutated gene was KCNQ1. These results differ from the results obtained in studies with other populations, where the most frequently mutated gene was KCNQ1.

This study -published in the Revista Española de Cardiología- was conducted by Juan Jiménez Jáimez, Luis Tercedor Sánchez, Miguel Álvarez López, Ricardo Sebastián Galdeano (Hospital Virgen de las Nieves), Esther Martínez Espín and José Antonio Lorente Acosta (Department of Legal Medicine and Toxicology of the University of Granada). Genetic analysis was performed at the Laboratory of Genetic Analysis Lorgen in Granada PTS.

«What it is important about this study is that it proves that genetic testing can help in diagnosing LQTS in patients without any phenotypic expression, that is, in patients with normal results in electrocardiogram and medical imaging tests» -researchers state. «This increases the chances of detecting relatives who may be carriers of the same disease but who obtain inconclusive results in other tests, which represents an important breakthrough, since these genetic diseases can be hereditary».

Although the results obtained are of great significance, the researchers warn about the fact that «this study is just an initial experience in our country, and it only describes the genotypic profile of a small sample of patients. A multicenter study will be necessary to obtain larger groups and draw conclusions that can be extrapolated to the general population» -researchers state.

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Researchers identify the genotype of disorders causing cardiac sudden death syndrome

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Researchers from the Hospital Virgen de las Nieves of the University of Granada have identified the most frequent mutations in the gene KCNH2 in patients with long QT syndrome.

Long Qt syndrome is a disorder of cardiac ionic channels that approximately affects one in every 2,500 people and may cause torsade de pointes episodes, which can trigger sudden death. This condition usually affects children and adolescents, and it is occasionally mistaken for convulsions, leading to a misdiagnosis of epilepsy.

So far, hundreds of mutations have been found in twelve genes of sodium and potassium channels. Thus, approximately 75% of the mutations in cases of LQTS are located in three genes: KCNQ1, the most frequent in other sectors of the population (potassium channel), KCNH2 (potassium channel) and SCN5A (sodium channel).

To carry out this study, researchers selected nine patients who met the diagnostic criteria for long QT syndrome, and four patients with ventricular fibrillation (cardiac arrest produced in the absence of any identifiable causes). These patients and their first-degree relatives were examined in the Arrhythmia Assessment Unit of the Hospital Virgen de las Nieves in Granada, Spain.

Genetic Study

Mutations were found in seven patients with long QT syndrome and in two patients with idiopathic ventricular fibrillation. Overall, 71.4% of mutations were in the gene KCNH2 and 28.6% were in SCN5A. No mutations were found in the gene KCNQ1. Only two mutations had been previously observed.

In fact, one of these mutations was studied in vitro, and their involvement in the etiology of the disease was definitely proved, which is a major contribution to this field of research (see picture). This test was conducted with the collaboration of the Department of Pharmacology of the Universidad Complutense of Madrid.

Of the 19 relatives studied, six were carriers of the mutation. Unlike previous studies, the study conducted in Granada proved that genetic testing had a high level of sensitivity for the diagnosis of patients with long QT syndrome, and that the most frequently mutated gene was KCNQ1. These results differ from the results obtained in studies with other populations, where the most frequently mutated gene was KCNQ1.

This study -published in the Revista Española de Cardiología- was conducted by Juan Jiménez Jáimez, Luis Tercedor Sánchez, Miguel Álvarez López, Ricardo Sebastián Galdeano (Hospital Virgen de las Nieves), Esther Martínez Espín and José Antonio Lorente Acosta (Department of Legal Medicine and Toxicology of the University of Granada). Genetic analysis was performed at the Laboratory of Genetic Analysis Lorgen in Granada PTS.

«What it is important about this study is that it proves that genetic testing can help in diagnosing LQTS in patients without any phenotypic expression, that is, in patients with normal results in electrocardiogram and medical imaging tests» –researchers state. «This increases the chances of detecting relatives who may be carriers of the same disease but who obtain inconclusive results in other tests, which represents an important breakthrough, since these genetic diseases can be hereditary».

Although the results obtained are of great significance, the researchers warn about the fact that «this study is just an initial experience in our country, and it only describes the genotypic profile of a small sample of patients. A multicenter study will be necessary to obtain larger groups and draw conclusions that can be extrapolated to the general population» –researchers state.

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