MELAS mitochondrial encephalomyopathy

MELAS mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes... 

MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) resuits from a point mutation in the mitochondriai tRNA gene. 

MELAS, Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes CPEO, chronic progressive external ophthalmoplegia LHON, Leber hereditary optic neuropathy NARP, neurogenic muscle weakness, ataxia, and retinitis pigmentosa NIDDM, non-insulin-dependent diabetes mellitus TER, termination. 

Figure 8-4. The effect of the MELAS mutation on mitochondrial function is to interfere with function of respiratory Complex I or I and IV, leading to increased levels of NADH and thus also of lactate. CoQ, coenzyme Q MELAS, mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes RC, respiratory complex.

G4. Goto, Y., Nonaka, I., and Horai, S., A mutation in the tRNA1 111 gene associated with file MELAS subgroup of mitochondrial encephalomyopathies. Nature 348, 651—653 (1990). 

H5. Hess, J. F., Parisi, M. A., Bennett, J. L., and Clayton, D. A., Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 351, 236-239 (1991). 

---