Publication: Identification of the variants in PARL, the nuclear modifier gene, responsible for the expression of LHON patients in Thailand
Issued Date
2013-11-01
Resource Type
ISSN
10960007
00144835
00144835
Other identifier(s)
2-s2.0-84883621713
Rights
Mahidol University
Rights Holder(s)
SCOPUS
Bibliographic Citation
Experimental Eye Research. Vol.116, (2013), 55-67
Suggested Citation
Rochmy Istikharah, Aung Win Tun, Supannee Kaewsutthi, Pratibha Aryal, Bussaraporn Kunhapan, Wanphen Katanyoo, Wanicha Chuenkongkaew, Patcharee Lertrit Identification of the variants in PARL, the nuclear modifier gene, responsible for the expression of LHON patients in Thailand. Experimental Eye Research. Vol.116, (2013), 55-67. doi:10.1016/j.exer.2013.08.007 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/32087
Research Projects
Organizational Units
Authors
Journal Issue
Thesis
Title
Identification of the variants in PARL, the nuclear modifier gene, responsible for the expression of LHON patients in Thailand
Other Contributor(s)
Abstract
The present study explored variation in the PARL gene as one of the potential nuclear modifiers in the pathogenesis of Leber hereditary optic neuropathy (LHON). Ten exons, their franking introns and 3' UTR of the PARL gene were analysed. Seventeen SNPs detected were investigated in 83 affected and 53 unaffected individuals from 47 independent Thai LHON pedigrees using MQLSstatistics in order to minimize the influence of the family background. Three intronic SNPs (rs953419, rs3749446 and rs1402000) showed statistically significant results. Joint haplotypes were constructed based on the genotypes at 3 SNPs and 7 possible haplotypes were observed in the 136 subjects. Our findings that the frequency of the haplotype AAC, and AAT were significantly higher in the unaffected cases and the frequencies of haplotype GGT were significantly higher in LHON cases, indicate that it might have a role in the penetrance of this mitochondrial disease. © 2013 Elsevier Ltd.
