Journal of Applied Genetics 42(3), 2001, pp. 351-358

MELAS as an example of a mitochondrial disease

Janusz PIECHOTA, Katarzyna MROCZEK, Ewa BARTNIK

Abstract: MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) is a disease mainly due to a mutation at position 3243 (A ? G) in the leucine tRNA gene in mitochondrial DNA. Symptoms of the disorder are complex and the exact pathogenesis is not understood. A review of the literature on the subject is presented.

Key words: mitichondrial diseases, MELAS.

Correspondence: E. BARTNIK, Department of Genetics, University of Warsaw and Institute of Biochemistry and Biophysics, Polish Academy of Sciences, ul. Pawinskiego 5a, 02-106 Warszawa, Poland; e-mail: ebartnik@ibb.waw.pl