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首页> 外文期刊>Annals of Human Genetics >Cognitive functioning and survival in the elderly: the SSADH C538T polymorphism.
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Cognitive functioning and survival in the elderly: the SSADH C538T polymorphism.

机译：老年人的认知功能和生存：SSADH C538T多态性。

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摘要

The variability of the Succinic Semialdehyde Dehydrogenase (SSADH, or ALDH5A1) gene affects both pathological and normal phenotypes correlated to cognitive function. We tested the association between the C538T polymorphism of the SSADH gene and preservation of cognitive function in the elderly, and its possible effects on survival. A sample from southern Italy (514 subjects; 18-107 years) was screened for C538T variability. We found that, within the 65-85 years age range, the T/T genotype is overrepresented in subjects with impaired cognitive function (MMSE < or = 23) compared to those with conserved cognitive function (MMSE > 23). Furthermore, we found that the T/T genotype affects survival after 65 years of age. In fact, after this age, the survival function of T/T homozygous subjects is lower than that of the others. Given that the enzymatic activity of the protein encoded by allele T is 82.5% of the activity of the protein encoded by allele C, our results suggest that the efficiency of the SSADH enzyme is important for the preservation of cognitive function and survival in the elderly.
机译：琥珀酸半醛脱氢酶（SSADH或ALDH5A1）基因的变异性会影响与认知功能相关的病理表型和正常表型。我们测试了SSADH基因的C538T多态性与老年人认知功能的保存及其对生存的可能影响之间的关联。筛选了来自意大利南部（514名受试者; 18-107岁）的样本的C538T变异性。我们发现，在65-85岁的年龄范围内，与具有保守的认知功能（MMSE> 23）的受试者相比，具有认知功能受损（MMSE <或= 23）的受试者的T / T基因型过高。此外，我们发现T / T基因型会影响65岁以后的生存。实际上，在这个年龄之后，T / T纯合受试者的生存功能低于其他受试者。考虑到等位基因T编码的蛋白质的酶活性是等位基因C编码的蛋白质的酶活性的82.5％，我们的结果表明，SSADH酶的效率对于保持老年人的认知功能和生存很重要。

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