Rapid and noninvasive screening of patients with mitochondrial myopathy

Nicky Kotsimbos, M. J.Bernadette Jean‐Francois, Marjan Huizing, Robert M.I. Kapsa, Patcharee Lertrit, Nuryati Chairani Siregar, Sangkot Marzuki, Carolyn Sue, Edward Byrne

Research output: Contribution to journalArticlepeer-review

28 Citations (Scopus)


In recent years, several point mutations in the mitochondria! genome have been associated with human disease. PCR Polymerase Chain Reaction/restriction endonuclease based techniques provide a reliable method for screening large numbers of specimens for many of the reported mutations. Muscle tissue usually carries the mutations and has been used in earlier studies. We describe a technique for analysis of mtDNA derived from hair follicles for a range of mutations. Both the 3243 A→G MELAS and 8344 A→G MERRF mutations were detected in mtDNA from hair follicles. In patients where both muscle and hair were screened, the mutation load was apparently higher in muscle. Furthermore, in patients positive for a given mutation, all the hair follicles analysed were shown to harbour the mutation, although the proportion of wild type to mutant mtDNA was found to somewhat vary. The advantages of this method are (1: six hair follicles provide sufficient mtDNA for analysis of at least 20 different mutations, and (2: specimen collection and transport to a central laboratory are easier than for other tissues. Our studies show that hair follicles constitute a reliable specimen for mitochondrial mutation screening at a diagnostic level. © 1994 Wiley‐Liss, Inc.

Original languageEnglish
Pages (from-to)132-135
Number of pages4
JournalHuman Mutation
Issue number2
Publication statusPublished - 1994


  • Mitochondrial myopathy
  • Screening


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