Novel mutations in ATPase 8, ND1 and ND5 genes associated with peripheral neuropathy of diabetes.
Type 2 diabetes (T2D), being a complex, multi factorial metabolic disorder, its chronic complications development remains puzzled. In this case report, we describe four novel mutations in Cyt b, ATPase 8, ND1 and ND5 genes' synergistic activity as plausible factors for the secondary complications of a patient with chronic T2D.
Department of Biotechnology, Bharathiar University, Coimbatore 641 043, Tamil Nadu, India.
Santhini
S
Elango
Sri Ramakrishna Hospital, Coimbatore 641 044, Tamil Nadu, India.
Sarveswaran
S
Venugopal
Centre for Cellular and Molecular Biology, Hyderabad 500 007, Andhra Pradesh, India. Electronic address: thangs@ccmb.res.in.
Kumarasamy
K
Thangaraj
Department of Biotechnology, Bharathiar University, Coimbatore 641 043, Tamil Nadu, India. Electronic address: padma.vijaya@gmail.com.
Vijaya Padma
VP
Viswanadha
D004272:DNA, Mitochondrial / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000150:complications / Q000235:genetics*; D042967:Electron Transport Complex I / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D024101:Mitochondrial Proteins / Q000235:genetics*; D025261:Mitochondrial Proton-Translocating ATPases / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009245:NADH Dehydrogenase / Q000235:genetics*; D010523:Peripheral Nervous System Diseases / Q000235:genetics* / Q000473:pathology; D011379:Prognosis
D004272:DNA, Mitochondrial; D024101:Mitochondrial Proteins; C481838:MT-ND5 protein, human; D009245:NADH Dehydrogenase; C515075:NADH dehydrogenase subunit 1, human; C513300:MT-ATP8 protein, human; D025261:Mitochondrial Proton-Translocating ATPases; D042967:Electron Transport Complex I
Micro vascular complications; Mitochondrial mutations; Peripheral neuropathy; Type 2 diabetes