Bik-Multanowski Miroslaw, Pietrzyk Jacek J, Midro Alina
Department of Medical Genetics, Jagiellonian University Medical College, Krakow, Poland.
Department of Clinical Genetics, Medical University Bialystok, Poland.
J Alzheimers Dis. 2015;46(1):145-50. doi: 10.3233/JAD-143030.
Morphological abnormalities observed typically in the brains of adults with Down syndrome are identical with those present in patients with Alzheimer's disease. However, only some adults with Down syndrome suffer from early dementia, whereas others remain unaffected. We aimed to identify the genomic background responsible for this observation. We performed cognitive assessment and genome expression analysis of blood mononuclear cells in seniors with Down syndrome. Unaffected elderly patients and younger patients with severe cognitive disability or cognitive deterioration differed significantly with regard to the MTRNR2L12 gene. Our findings suggest the potential value of this gene as a blood marker of early dementia in individuals with Down syndrome.
在唐氏综合征成年患者大脑中典型观察到的形态学异常与阿尔茨海默病患者中存在的异常相同。然而，只有一些唐氏综合征成年患者患有早期痴呆症，而其他患者则未受影响。我们旨在确定造成这一现象的基因组背景。我们对唐氏综合征老年人的血液单核细胞进行了认知评估和基因组表达分析。未受影响的老年患者以及患有严重认知障碍或认知衰退的年轻患者在MTRNR2L12基因方面存在显著差异。我们的研究结果表明该基因作为唐氏综合征个体早期痴呆症血液标志物的潜在价值。
