Single mitochondrial DNA deletions in chronic progressive external ophthalmoplegia (CPEO) and Kearns-Sayre syndrome (KSS) patients from a multiethnic Asian population
- Author:
Jia-Woei Chong
;
Azlina Ahmad Annuar
;
Kum-Thong Wong
;
Meow-Keong Thong
;
Khean-Jin Goh
- Publication Type:Journal Article
- From:Neurology Asia
2014;19(1):27-36
- CountryMalaysia
- Language:English
-
Abstract:
Mitochondrial DNA (mtDNA) deletions are a major cause of chronic progressive external ophthalmoplegia
(CPEO) and Kearns-Sayre syndrome (KSS). We analyzed single mtDNA deletions in 11 CPEO and
one KSS patients by means of Southern blot and long polymerase chain reaction (PCR) assays. The
deletion sizes ranged from 3.4 kb to 6.9 kb whereas the heteroplasmy level varied from 18.8% to
85.5%. Two unique deletions sized 4320 bp and 4717 bp were found. This study represents the first
genetic screen of mtDNA disorders in Malaysia, and it follows the data seen in other published reports
on CPEO and KSS genetic aetiology.
- Full text:P020150623463467907088.pdf
