Carr I M, Markham A F
Molecular Medicine Unit, University of Leeds, St James's University Hospital, UK.
Mamm Genome. 1995 Sep;6(9):645-52. doi: 10.1007/BF00352373.
The polyol pathway comprises the enzymes aldose reductase and sorbitol dehydrogenase, which convert glucose to sorbitol and sorbitol to fructose, respectively, particularly in hyperglycemic states. The accumulation and toxicity of sorbitol in specific tissues has been implicated in the development of microvascular problems in some diabetic patients. Inappropriate sorbitol accumulation in some patients may be the result of polymorphic variation in the human sorbitol dehydrogenase gene, causing reduced expression levels or enzymatic activity. We now describe the structure and expression profile of the human sorbitol dehydrogenase gene and identify a range of polymorphic variants that may be useful for co-segregation studies in diabetic patients with and without severe clinical complications from their disease.
多元醇途径由醛糖还原酶和山梨醇脱氢酶组成，这两种酶分别将葡萄糖转化为山梨醇，将山梨醇转化为果糖，尤其在高血糖状态下。山梨醇在特定组织中的积累和毒性与一些糖尿病患者微血管问题的发生有关。一些患者中山梨醇的不适当积累可能是人类山梨醇脱氢酶基因多态性变异的结果，导致表达水平或酶活性降低。我们现在描述人类山梨醇脱氢酶基因的结构和表达谱，并鉴定一系列多态性变异，这些变异可能有助于对患有或未患有严重临床并发症的糖尿病患者进行共分离研究。
