PMID: 9436797Jan 22, 1998Paper

Mutational analysis of mitochondrial DNA of children with Rett syndrome

Pediatric Neurology
J TangX R Wu

Abstract

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 mothers was analyzed. No large deletions in mtDNA were found using Southern blot with a full-length mtDNA as a probe. Polymerase chain reaction amplification and single strand conformation polymorphism analysis showed mutations in region 2650-3000 encoding 16S rRNA of mtDNA in 13 cases of RS and 11 of their mothers. DNA sequence analysis and mismatch polymerase chain reaction results revealed a point mutation (C --> T) at position 2835 in 7 cases of RS and 6 of their mothers. The same mutation was not found in a total of 30 normal controls. These data indicate that mtDNA may play an important role in the pathogenesis of RS.

Citations

Aug 30, 2000·Pediatric Neurology·J ArmstrongE Monrós
Aug 5, 2000·Genes & Genetic Systems·K Hashiguchi, T Ikushima
Nov 15, 2014·The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences·Shana M KatzmanUNKNOWN Health, Aging, and Body Composition Study
Jun 4, 2005·International Journal of Immunogenetics·A BayatW E R Ollier
Oct 4, 2014·Science·Alan BrownV Ramakrishnan
Dec 3, 2003·Journal of Child Neurology·John Christodoulou, Linda S Weaving
Apr 6, 1999·Journal of Child Neurology·C EllawayJ Christodoulou
Dec 30, 1999·Journal of Child Neurology·N C Schanen
Sep 5, 2002·American Journal of Medical Genetics·Heidi A HeilstedtBrendan Lee
Jan 29, 2017·Mitochondrial DNA. Part A. DNA Mapping, Sequencing, and Analysis·Xiang LinXin-Kui Yao
Dec 22, 1999·Journal of Inherited Metabolic Disease·C J EllawayJ Christodoulou
Dec 15, 2020·FEBS Letters·Alberto FerrariAntoni Barrientos
May 1, 2021·International Journal of Molecular Sciences·Maria Isabel G Lopez SanchezJoanna Rorbach

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