Clinical characteristics of diabetic pedigree with mtDNA 12026A→G mutation in Nd4 region
- VernacularTitle:携带线粒体DNA ND4区12026A→G点突变的糖尿病家系临床特点
- Author:
Mingzhen LI
;
Demin YU
;
Demin LIU
- Publication Type:Journal Article
- Keywords:
Mitochondrial DNA mutation;
Pedigrees,diabetes
- From:
Chinese Journal of Diabetes
2008;16(5):260-261,264
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate clinical traits of 2 families members habouring mtDNA 12026A→G mutation based on our previous studies.Methods 25 members in 2 families with probands with mtDNA 12026 mutation were examined.All their clinical and biochemical data were collected.Total genome was extracted conventionally from peripheral leucocytes of all participants,and PCR-RFLP techniques were applied to screen A to G substitution at nucleotide 12026 of mtDNA in ND4 region.Results We found 13 individuals habouring the 12026 A→G mutation in 2 pedigrees,all without deafness.Among them,5 with diabetes were found.Interestingly,we found 3 individuals with hyperthyroidism in one family(one also combined with diabetes).Conclusions Our findings suggest that diabetic families with mtDNA 12026 A→G mutation in ND4 region can have different clinical pictures,and may involve in autoimmune diseases
