Screening of common point-mutations and discovery of new T14727C change in mitochondrial genome of Vietnamese encephalomyopathy patients

Abstract

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.

• Heteroplasmy
• homoplasmy
• mitochondrial tRNA^Glu
• PCR-RFLP

Acknowledgements

The authors would like to thank Professor Liem Thanh Nguyen, at NHP for his kind support, Dr Hung V. Le of Protein Science Consulting LLC & The Vietnamese Heritage Institute and Assoc. Prof. Ross C. Feldberg of Tufts University, USA for critical reading of the manuscript.

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper. This work was financially supported by The National Foundation for Science and Technology (NAFOSTED) project, code 106.06.123.09.