DIABETES-MELLITUS ASSOCIATED WITH A PATHOGENIC POINT MUTATION IN MITOCHONDRIAL-DNA
DIABETES-MELLITUS ASSOCIATED WITH A PATHOGENIC POINT MUTATION IN MITOCHONDRIAL-DNA
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DOI：
10.1016/0140-6736(92)92560-3
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发表时间：
1992-12-05
期刊：
影响因子：
168.9
通讯作者：
TREMBATH, RC
中科院分区：
文献类型：
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作者：
REARDON, W;ROSS, RJM;TREMBATH, RC
糖尿病(DM)的家庭研究表明，患者的母亲比受影响的父亲更有可能受到影响。由于线粒体(MtDNA)的遗传不同于核DNA，完全是母系遗传，会不会是线粒体DNA缺陷(S)导致了一些DM病例？这种缺陷与罕见的神经综合征有关，其中一些是伴随的糖尿病特征。我们在一个家庭中寻找葡萄糖耐量异常和先前已知的mtDNA点突变，该家庭的一些成员有糖尿病的多系统障碍，但没有神经参与。DNA样本来自14个家庭成员。这一点突变(影响tRNA亮氨酸线粒体基因3243位)在所有三名糖尿病患者和先证者的死后组织中都发现；在7名女性患者的后代中也发现了这一点突变。在男性先证者的两个孩子中没有发现这种突变。这种突变对糖尿病的总体贡献尚不清楚，但临床医生应该意识到这种可能性，特别是在有多系统疾病和母系传播的家庭中。
Family studies of diabetes mellitus (DM) show that patients are more likely to have affected mothers than affected fathers. Since the inheritance of mitochondrial (mtDNA), unlike nuclear DNA, is exclusively maternal, could it be that defect(s) in mtDNA account for some cases of DM? Such defects have been associated with rare neurological syndromes, in some of which DM has been an accompanying feature. We have looked for glucose intolerance and for a previously known point mutation of mtDNA in a family, some of whose members have a multisystem disorder with DM but not neurological involvement.DNA samples were obtained from fourteen family members. The point mutation (affecting position 3243 in the tRNA leucine mitochondrial gene) was found in all three diabetic patients and post mortem tissues in the proband; it was also found in seven offspring of female patients. It was not found in the two children of the male proband.The contribution of this mutation to DM in general is not known but clinicians ought to be aware of the possibility, especially in families with multisystem disease and maternal transmission.