MUTATIONAL ANALYSIS OF MITOCHONDRIAL-DNA OF CHILDREN WITH RETT-SYNDROME

The present study was undertaken to identify whether mitochondrial DNA (mtDNA) mutations were involved in the pathogenesis of Rett syndrome (RS). Mitochondrial DNA from 15 children with RS and 14 of their mothe rs was analyzed. No large deletions in mtDNA were found using Southern blot with a full-length mtDNA as a probe. Polymerase chain reaction a mplification and single strand conformation polymorphism analysis show ed mutations in region 2650-3000 encoding 16S rRNA of mtDNA in 13 case s of RS and 11 of their mothers. DNA sequence analysis and mismatch po lymerase chain reaction results revealed a point mutation (C --> T) at position 2835 in 7 cases of RS and 6 of their mothers. The same mutat ion was not found in a total of 30 normal controls, These data indicat e that mtDNA may play an important role in the pathogenesis of RS. (C) 1997 by Elsevier Science Inc. All rights reserved.