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

Objective To investigate the prevalence of mtDNA A3243G mutation in the early onset diabetics in Tianjin for exploring the relationship between mtDNA mutation and diabetes. Methods 348 kinship-free diabetics whose ages at onset were less than 45y were randomly recruited, with 207 control subjects. The PCR-RFLP and cloning techniques were applied to screen the A to G substitution at nucleotide 3243 of mtDNA tRNALEU（UUR）. Meanwhile, the clinical and genetic analysis was done from one pedigree. Results We detected two diabetics harboring the well-known a3243g mutation with the mutation frequency of 0.6%. While the mutation frequency in diabetics with （positive） family history was 1.2%, and zero in the control subject. The proband showed a typical （picture） of mitochondrial diabetes mellitus, while the other family members harboring the same （mutation） had heterogeneous presentation. Conclusion The prevalence of mtDNA A3243G mutation in early onset diabetes of Tianjin is low, but relatively higher in diabetes complicated with other （symptoms） of mitochondrial disease. Furthermore, its heterogeneity would decrease with aging in （mitotic） tissue

Objective To explore the relationship between MTHFR gene polymorphism and ~diabetic cardiovascular disease. Methods The MTHFR C677T and MTHFR A1298C gene polymorphisms were detectd by PCR-RFLP to compare MTHFR C677T and MTHFR A1298C genotype distribution and allele frequencies among three groups. Enrolled were 84 healthy individuals (NC) and 158 T2DM subjects who were classified into two groups, i.e. non-diabetes complications (NDC) and ~diabetic cardiovascular disease (DC). Results Patients with diabetic cardiovascular disease had higher frequencies of MTHFR C677T mutation genotype and T allele than control and non-diabetes complications subjects, and had lower folate levels (P<0.001). There were no significant differences in MTHFR A1298C genotype distribution and allele frequencies among three groups (P>0.05). A logistic regression analysis demonstrated that MTHFR C677T and age were the independent predictors of DC. Conclution There is a strong correlation between the polymorphism of MTHFR C677T and diabetic cardiovascular disease.

Objective To investigate the relationship between point mutation of nt3394 T→C of mitochondrial DNA ND1 and type 2 diabetes mellitus(DM) in the elderly. Methods Two hundred and eight patients with type 2 diabetes mellitus and 180 subjects with normal glucose tolerance without DM family history were included. The mutation was determined by polymerase chain reaction and restriction fragment length polymorphism(PCR RFLP). Results The point mutation of nt3394 T→C of mitochondrial DNA ND1 was found in 9 of 208 elderly patients with type 2 DM(4 3%), and 1 of 180 controls (0 6%). The incidence of this mutation was significantly different between the two groups ( P

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.

OBJECTIVE To determine the most effective viral vector in infecting the spiral ganglion cells and cochlear nerve fibers among three viral vectors that was inoculated via round window membrane. METHODS Three types vectors carrying GFP gene including Lentivirus, Adenovirus-5 and Adenoassociated virus-2 were infused into the perilymphatic space through the round window membrane with micro injector in rat respectively. The distribution and intensity of green fluorescence were estimated by fluorescent microscope at 3days, 7days and 14days after gene transfer. RESULTS Multiple types of cochlear cells were infected by three different viral vectors. In contrast to the other vectors, the adenovirus-5 vector effectively transfected spiral ganglion cells and cochlea nerve fibers with high expression level for 2 weeks. CONCLUSION Distribution of GFP gene expression mediated by three kinds of viral vector was different obviously in rat cochlea, only adenovirus-5 successfully targets cochlear spiral ganglion cells. These findings are of value in gene therapy for cochlear spiral ganglion cell degeneration.

Leptin as a polypeptide has a wide range of biologic effects, which can regulate appetite and energy metabolism common with leptin receptor. Recent studies found that leptin was related with tumor formation and development, which contribute to tumor progression by increasing angiogenesis, stimulates cell proliferation, adhesion and invasion through multiple channels.

he proangiogenic effect.

Objective To investigate the effects of C-peptide on apoptosis induced by high glucose and analyze the relationship between the apoptosis and expression of eNOS in HUVEC. Methods We determined the HUVEC apoptosis by Annexin-V, the expression of eNOS mRNA of HUVEC by RT-PCR, the apoptotic quantity of HUVEC by DNA fragment ELISA. Results High level of glucose could increase HUVEC apoptosis (P<0.01) and reduce the expression of eNOS. After adding physiological or high concentration of C-peptide, the apoptosis decreased and the expressions of eNOS increased markedly, with the relationship coefficient of -0.854 (P<0.01). Conclusion High glucose may induce apoptosis. Physiological or high concentration of C-peptide may reduce the apoptosis induced by hyperglycemia, the relationship between apoptosis and eNOS is negative.

The study on aldose reductase gene intron 8 A95 C polymorphismin 209 type 2 dia-betic patients and 84 healthy controls showed that the frequency of genotype AAis 7 %in DN,higherthan that in non-nephropathy (1 %) and control (1 %) ,suggsting that intron 8 genotype AA may be arisk factor for diabetic nephropathy .