Screening of common point-mutations and discovery of new T14727C change in mitochondrial genome of Vietnamese encephalomyopathy patients.
Vietnamese patients (106) tentatively diagnosed with encephalomyopathy were screened for the presence of 15 common point mutations in mitochondria using PCR-RFLP. The screened mutations include A3243G, T3271C and T3291C for Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS); A8344G and T8356C for Myoclonus Epilepsy and Rag-Red Fibers (MERRF); G11778A, G3460A and T14484C for Leber's Hereditary Optic Neuropathy (LHON); T8993G/C and T9176G for Leigh syndrome; A1555G for deafness syndrome; G4298A, T10010C, T14728C and T14709C for neuromuscular syndrome. As a result, 6 cases of A3243G (5.7%) and 2 cases of T14727C (3.9%) were found. The 6 cases of A3243G mutation were heteroplasmic at different levels (4.23-80.85%). The T14727C change was discovered for the first time in the MTTE gene encoding for tRNA(Glu) and showed homoplasmy. The T14727C change was probably a mutation because it was further confirmed as vertically inherited from the mother and not the result of isolated polymorphism.
a Key Laboratory of Enzyme and Protein Technology , VNU University of Science , Hanoi , Vietnam .
Hue Thi
HT
Truong
a Key Laboratory of Enzyme and Protein Technology , VNU University of Science , Hanoi , Vietnam .
Van-Anh Thi
VA
Nguyen
b Department of Neurology , Bach Mai Hospital , Hanoi , Vietnam , and.
Lieu Van
LV
Nguyen
c National Hospital for Pediatrics , Dongda , Hanoi , Vietnam.
Van-Anh
VA
Pham
a Key Laboratory of Enzyme and Protein Technology , VNU University of Science , Hanoi , Vietnam .
Tuan-Nghia
TN
Phan
D044466:Asian People; D004272:DNA, Mitochondrial; D005260:Female; D054629:Genome, Mitochondrial / Q000235:genetics*; D006801:Humans; D007888:Leigh Disease / Q000235:genetics* / Q000473:pathology; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic
D004272:DNA, Mitochondrial
Heteroplasmy; PCR-RFLP; homoplasmy; mitochondrial tRNAGlu