Mutations of Myocardial Mitochondrial DNA in Diabetic Patients

Author(s):  
Nobuakira Takeda ◽  
Akira Tanamura ◽  
Takaaki Iwai ◽  
Yuusaku Hayashi ◽  
Satoko Nomura
2008 ◽  
Vol 52 (8) ◽  
pp. 1228-1235 ◽  
Author(s):  
Daisy Crispim ◽  
Aline A. F. Estivalet ◽  
Israel Roisenberg ◽  
Jorge L. Gross ◽  
Luis H. Canani

The aim of the present study is to investigate the prevalence of ten described mitochondrial DNA (mtDNA) mutations in patients with type 2 diabetes, and search for new mutations in four mtDNA genes in a subgroup of patients with characteristics of maternally inherited diabetes and deafness (MIDD). These mutations were investigated in 407 type 2 diabetic patients without characteristics of mitochondrial diabetes ("classical" type 2 diabetes group) and in 38 type 2 diabetic patients with characteristics suggestive of MIDD. Through sequencing of four mtDNA genes in MIDD patients, we selected five others potentially pathogenic mutations that were also screened in the remaining patients. Overall, the frequency of the fifteen analyzed mutations was 36.84% in the MIDD group and 2.45% in the "classical" type 2 diabetes group (p < 0.001). In conclusion, our study reinforces the importance of mtDNA mutations in the pathogenesis of MIDD.


2005 ◽  
Vol 1042 (1) ◽  
pp. 64-69 ◽  
Author(s):  
TSU-KUNG LIN ◽  
SHANG-DER CHEN ◽  
PEI-WEN WANG ◽  
YAU-HUEI WEI ◽  
CHENG-FENG LEE ◽  
...  

Diabetes Care ◽  
2001 ◽  
Vol 24 (5) ◽  
pp. 865-869 ◽  
Author(s):  
J. Song ◽  
J. Y. Oh ◽  
Y.-A. Sung ◽  
Y. K. Pak ◽  
K. S. Park ◽  
...  

2001 ◽  
Vol 280 (6) ◽  
pp. E1007-E1014 ◽  
Author(s):  
Kyu-Sang Park ◽  
Kyung-Jay Nam ◽  
Jun-Woo Kim ◽  
Youn-Bok Lee ◽  
Chang-Yeop Han ◽  
...  

Maternally inherited mitochondrial DNA (mtDNA) has been suggested to be a genetic factor for diabetes. Reports have shown a decrease of mtDNA content in tissues of diabetic patients. We investigated the effects of mtDNA depletion on glucose metabolism by use of ρ0 SK-Hep1 human hepatoma cells, whose mtDNA was depleted by long-term exposure to ethidium bromide. The ρ0 cells failed to hyperpolarize mitochondrial membrane potential in response to glucose stimulation. Intracellular ATP content, glucose-stimulated ATP production, glucose uptake, steady-state mRNA and protein levels of glucose transporters, and cellular activities of glucose-metabolizing enzymes were decreased in ρ0 cells compared with parental ρ+ cells. Our results suggest that the quantitative reduction of mtDNA may suppress the expression of nuclear DNA-encoded glucose transporters and enzymes of glucose metabolism. Thus this may lead to diabetic status, such as decreased ATP production and glucose utilization.


2001 ◽  
Vol 54 (3) ◽  
pp. 215-217 ◽  
Author(s):  
M Iwase ◽  
D Gotoh ◽  
M Urata ◽  
D Kang ◽  
N Hamasaki ◽  
...  

Diabetes Care ◽  
1997 ◽  
Vol 20 (11) ◽  
pp. 1800-1801 ◽  
Author(s):  
Y. Fukunaga ◽  
N. Azuma ◽  
H. Koshiyama ◽  
D. Inoue ◽  
H. Sato ◽  
...  

2018 ◽  
Vol 7 (8) ◽  
pp. 220 ◽  
Author(s):  
Noelia Diaz-Morales ◽  
Sandra Lopez-Domenech ◽  
Francesca Iannantuoni ◽  
Ester Lopez-Gallardo ◽  
Eva Sola ◽  
...  

The association between mitochondrial DNA (mtDNA) haplogroup and risk of type 2 diabetes (T2D) is undetermined and controversial. This study aims to evaluate the impact of the main mtDNA haplogroups on glycaemic control and renal function in a Spanish population of 303 T2D patients and 153 healthy controls. Anthropometrical and metabolic parameters were assessed and mtDNA haplogroup was determined in each individual. Distribution of the different haplogroups was similar in diabetic and healthy populations and, as expected, T2D patients showed poorer glycaemic control and renal function than controls. T2D patients belonging to the JT haplogroup (polymorphism m.4216T>C) displayed statistically significant higher levels of fasting glucose and HbA1c than those of the other haplogroups, suggesting a poorer glycaemic control. Furthermore, diabetic patients with the JT haplogroup showed a worse kidney function than those with other haplogroups, evident by higher levels of serum creatinine, lower estimated glomerular filtration rate (eGFR), and slightly higher (although not statistically significant) urinary albumin-to-creatinine ratio. Our results suggest that JT haplogroup (in particular, change at position 4216 of the mtDNA) is associated with poorer glycaemic control in T2D, which can trigger the development of diabetic nephropathy.


Diabetologia ◽  
1996 ◽  
Vol 39 (10) ◽  
pp. 1196-1200 ◽  
Author(s):  
T. Kobayashi ◽  
Y. Oka ◽  
H. Katagiri ◽  
A. Falorni ◽  
A. Kasuga ◽  
...  

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