家族性糖尿病中线粒体tRNA^(Leu(UUR))基因突变的发生率及临床特点

PREVALENCE OF MITOCHONDRIAL tRNA 1eu(UUR) GENE MUTATION IN DIABETIC PATIENTS WITH FAMILY HISTORY AND CLINICAL CHARACTERIZATION OF THE SUFFERED PATIENTS

应用ＰＣＲ－ＲＦＬＰ方法，对１４０例有家族史的糖尿病患者的线粒体ｔＲＮＡ１ｅｕ（ＵＵＲ）基因ｎｔ３２４３Ａ→Ｇ突变进行筛查，结果发现６例（４．３％）该突变基因阳性者。总结其主要临床特征为：①呈母系遗传，②起病早（＜４０岁），③多消瘦（ＢＭＩ＜２４ｍｇ／ｍ２），④继发性口服降糖药失效需用胰岛素治疗，⑤多伴有神经性耳聋。本研究提示该突变在中国人家族性糖尿病群体中有较高的发生率；在临床上属于另一种糖尿病亚型。

There is suggestion recently that an A to G transition at nucleotide pair 3243 of the mitochondrial gene, a tRNA 1eu(UUR) mutation may play a role in the pathogenesis of diabetes mellitus. To assess the prevalence of this mutation in South China, we screened 140 unrelated diabetic patients with family history of diabetes using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). Six patients (4.3%) were identified as having this mutation. There was none with this mutation in 50 normal controls. Those with the mutation possess the following clinical features: ①the mitochondrial gene is maternally inherited; ②the age of diabetes onset is lower (<40 years old); ③the patients relatively have lean constitutions(BMI<24 kg/m 2); ④ they more likely have to be treated with insulin due to secondary failure to oral hypoglycemic agents; ⑤about 60% of them suffered from hearing loss. The study suggested that diabetes mellitus and deafness associated with the mutation represents a subtype of diabetes found in both patients with IDDM and NIDDM in China and the prevalence of the mutation is relatively high in diabetes mellitus with a family history.