Down syndrome, more commonly known as "trisomy 21" is very often accompanied by pathologies found in the general population: Alzheimer's disease, leukemia, or cardiac deficiency. In a study conducted by Professor Stylianos Antonarakis' group from the Faculty of Medicine of the University of Geneva (UNIGE), researchers have identified the genomic variations associated with trisomy 21, determining the risk of congenital heart disease in people with Down syndrome.
The targeted and specific study of chromosome 21 revealed two genomic variations, which, in combination, are the hallmark of hereditary cardiac deficiency. These results are being published in the journal Genome Research and add to other research conducted by the same team about chronic myeloid leukemia, a severe form of leukemia that often affects people with Down syndrome. The journal Blood is publishing these advances in the understanding of a disease which, like hereditary cardiac deficiencies or early Alzheimer's, affects the general population.Heart disease is a common disorder of Down syndrome. While the presence of a third gene in the n°21 pair (which characterizes the disease) increases the risk of heart disease, it is not the sole cause: genetic variations—or polymorphisms—as well as certain environmental factors also contribute to it. Genetic variations create the diversity of human beings, their predispositions, and the differences in the expression of similar genes.
Stylianos Antonarakis | EurekAlert!
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