Analysis Of The Clinical Characteristics Of A Family Of Diabetes Mellitus And The Screening Of Mitochondrial TRNA ^{Leu (UUR) Gene Mutations}

[Background] Diabetes mellitus is one of the most common metabolic diseases. With the increasing prevalence and variety of acute and chronic complications, diabetes mellitus is a serious disease that threatens human’s health. Part of the diabetic patients with familial aggregation, which is there have3or more than3family members with diabetes mellitus in a pedigree.[Objective] To analysis the clinical characteristics of familial aggregation in a diabetic pedigree with seven cases in three generations.[Methods] The collected clinical date, biochemistry index, inheritance pattern and clinical characteristics were analyzed.[Results] Of7family members with diabetes mellitus in the pedigree,3were male and4were female, and the age at onset was30-55years old. The waist circumference of male patients with diabetes mellitus was more than90cm except Ⅲ-1, and that of the female patients was more than80cm. The waist-to-hip ratio of male patients was more than0.9, and that of the female patients was more than0.85. The waist circumference was more than80cm, and the waist-to-hip ratio was more than0.85in Ⅱ-5、Ⅲ-3without diabetes mellitus, which indicated there was central obesity. In all the family members with diabetes mellitus of this pedigree, the value of TG was more than1.7mmol/L. The value of TC was more than5.18mmol/L, LDL-C was3.37mmol/L, and HDL-C was less than1.04mmol/L in some the family members, which indicated there was abnormal lipid metabolism. The concentration of blood lactic acid was more than2.1mmol/L in all the members of this pedigree, which may related to mitochondrial dysfunction. The HOMA-IR was more than2.1in all the family members except Ⅳ-1and Ⅳ-3, which indicated there was insulin resistance.[Conclusion] There may be maternal inheritance in this diabetic pedigree. The value of blood pressure, TC, TG, LDL-C and HOMA-IR in most of the family members with diabetes mellitus was higher than that of unaffected members, and HDL-C was lower than them. The insulin resistance exist in the unaffected family members. [Background] The discovery of mitochondrial diabetes mellitus is an important progress in diabetic molecular genetics. The criterion of diagnosis and classification of diabetes mellitus was made by ADA in1997and WHO in1999, and mitochondrial diabetes mellitus was a special type of diabetes mellitus, which Belonging to β cell dysfunction hereditary diabetes. Mitochondrial tRNALeu(UUR)3243A→G gene mutation diabetes is one of the most common mutation.[Objective] To identify the pathogenic genes of this diabetic pedigree.[Methods] The PCR and DNA direct nucleotide sequencing were used to screen the gene mutation of this diabetic pedigree.[Results] Mitochondrial tRNALeu(UUR)3243A→G gene mutation was not detected in this pedigree.[Conclusion] Mitochondrial tRNALeu(UUR)3243A→G gene mutation was not the pathogenic genes of this diabetic pedigree.