Methylomic profiling in trisomy 21 identifies cognition- and Alzheimer’s disease-related dysregulation
A study on DNA methylation at the genome level has just been carried out in partnership with the CRB BioJeL, the Institut Jérôme Lejeune and the Institute of Human Genetics of the University of Würzburg in Germany.
This study confirms that Trisomy 21 patients have different DNA methylation profiles than the general population. Certain alterations in methylation in T21 individuals could help to explain part of the variation in cognitive impairment observed between T21 individuals. In addition, given the increased risk of developing Alzheimer’s disease in T21 individuals, the blood DNA methylation sites associated with T21 and those of non-T21 individuals from the AgeCoDe cohort (German study on aging, cognition and dementia) were analyzed.
One gene, ADAM10, appears to play a role in phenotypic variations in Down syndrome patients related to premature aging and concomitant development of Alzheimer’s disease. ADAM10 has already been shown to play a role in preventing the formation of amyloid plaques in the brain.
Further studies with larger cohorts may help confirm these observations. If this is the case, the incriminating loci may become valuable for the development of blood biomarkers for cognition and for the development of new drug targets.
This study has just been published in the journal Clinical Epigenetics.