Random mitotic segregation of mitochondrial DNA in MELAS syndrome

C. C. Huang*, R. S. Chen, N. S. Chu, C. Y. Pang, Y. H. Wei

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

16 Scopus citations


We describe the heterogeneity of clinical features and molecular genetic characteristics of the probands and other members in two families with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome. A point mutation at the 3243rd nucleotide position of mtDNA was found only in some of the maternal lineage members of the two families. Furthermore, the proportions of mutant mtDNA were varied and found only in some tissues of the individuals. Intriguingly, in some subjects, the mutant mtDNA was found in blood cells or hair follicles but was absent in muscles. The data do not support the notion of a selective advantage of wild-type mtDNA to rapidly replicating cells. We suggest that a rapid replicative segregation may occur in early embryogenesis.

Original languageEnglish
Pages (from-to)198-202
Number of pages5
JournalActa Neurologica Scandinavica
Issue number2-3
StatePublished - 1996
Externally publishedYes


  • Human genetics
  • Mitotic segregation
  • Mutation
  • mtDNA


Dive into the research topics of 'Random mitotic segregation of mitochondrial DNA in MELAS syndrome'. Together they form a unique fingerprint.

Cite this