Журнал медицинских методов диагностики
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DNA Methylation Alterations in Down Syndrome Toddlers' Blood Cells

Kristine Warner

Trisomy 21 causes genome-wide abnormalities in DNA methylation patterns, which have been observed in multiple organs of people with Down syndrome (DS) at various developmental stages, according to new research. New data on systematic genome-wide DNA methylation alterations in blood cells of people with DS from a hitherto understudied age group-young children-is presented here. We show that the findings of the study are very similar to those found in the preceding literature. We further follow a quasi-longitudinal trend in the DS-associated DNA methylation patterns as a systematic epigenomic instability with age, using relevant published data from two other developmental stages, neonatal and adult. One of the most frequent chromosome abnormalities is Down Syndrome (DS). According to the World Health Organization, the global incidence of Down syndrome is between one and 1000 live births. The presence of extra genetic material on chromosome 21 causes the syndrome, which is linked to physical growth delays, intellectual incapacity, and other developmental and physical impairments. More than 80 clinical DS characteristics have been identified, none of which can be explained solely by chromosome 21 gene triplication. Furthermore, despite the expected effect of “gene dosage,” the expression of these genes may stay unchanged in DS.