Rapid and noninvasive screening of patients with mitochondrial myopathy

✍ Scribed by Nicky Kotsimbos; M. J. Bernadette Jean-Francois; Marjan Huizing; Robert M. I. Kapsa; Patcharee Lertrit; Nurjati C. Siregar; Sangkot Marzuki; Carolyn Sue; Edward Byrne

• Publisher: John Wiley and Sons
• Year: 1994
• Tongue: English
• Weight: 394 KB
• Volume: 4
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/humu.1380040207

✦ Synopsis

In recent years, several point mutations in the mitochondrial genome have been associated with human disease. PCR Polymerase Chain Reactionhestriction 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-tG 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 2 0 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. o 1994 WiIey-Liss, Inc.