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.
"Microprocessor" is the key
In Nature Structural and Molecular Biology,
In these new studies, the authors are using an embryonic model of induced pluripotent stem cells (iPSCs). That is, from cells donated by patients with DiGeorge syndrome, stem cells with the disease are generated. This is an ideal model to determine the impact of the repeated sequences from which the deletion that causes this pathology are generated: in other words, the embryonic stage. It is foreseen that these studies will clarify the molecular base for this highly complex disease, as well as permit the long-term development of new therapies for its treatment.
Keywords for this news article include: Genetics, Electronics,
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