Mechanism preserving genome integrity help develop new therapies against DiGeorge syndrome

67208 An international team of scientists-including researchers at GENYO, the Centre for Genomics and Oncological Research (Pfizer-University of Granada- Andalusian Regional Government)-has described a molecular mechanism that facilitates the defence of the human genome against «bombarding» by mobile DNA sequences. Abnormalities in the mechanism could be responsible for some symptoms of DiGeorge syndrome, a rare disease. The research could in the future help develop new therapies against the disease, which is caused by the microdeletion of a small part of chromosome 22.

The study, published this week in the prestigious Nature Structural and Molecular Biology journal, describes a sophisticated mechanism that enables all of our cells to control the uncontrolled movement of mobile DNA in our genomes. In patients with DiGeorge syndrome, the cells present abnormalities in the control mechanism. Currently, the research team are trying to generate stem cells that «suffer» from the disease from cells donated by patients who have it-which would enable them to clarify the molecular base of this complex pathology.

DiGeorge syndrome, also known as deletion 22q11.2, is the most common genetic disease caused by a chromosome microdeletion in humans. It has an estimated prevalence of 1 in 4000 births and symptoms vary greatly. Typically, these affect the heart and immune system, as well as presenting as learning difficulties, mental retardation and psychiatric disorders.

The disease is characterized by absence of the «Microprocessor» protein complex, which means these patients lack a ‘vigilante’ gene to watch out for repeated sequences and, therefore, are potentially susceptible to being bombarded by these DNA fragments.

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