Open AccessLeber's Hereditary Optic Neuropathy–Specific Mutation m.11778G>A Exists on Diverse Mitochondrial Haplogroups in India
Author(s) -
Nahid Khan,
Periyasamy Govindaraj,
Nagasamy Soumittra,
Sonika Sharma,
Sundaramoorthy Srilekha,
Ambika Selvakumar,
Ayyasamy Vanniarajan,
Angamuthu K. Meena,
Megha Uppin,
Sundaram Challa,
Parayil Sankaran Bindu,
Narayanappa Gayathri,
Arun B. Taly,
Kumarasamy Thangaraj
Publication year - 2017
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.935
H-Index - 218
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.16-20695
Subject(s) - haplogroup , penetrance , human mitochondrial dna haplogroup , mitochondrial dna , genetics , leber's hereditary optic neuropathy , biology , optic neuropathy , point mutation , haplotype , mutation , proband , genotype , gene , phenotype , optic nerve , neuroscience
Leber's hereditary optic neuropathy (LHON; OMIM 535000) is one of the most common maternally inherited mitochondrial disorders. Three mitochondrial DNA point mutations-m.3460G>A (MT-ND1), m.11778G>A (MT-ND4), and m.14484T>C (MT-ND6)-account for the majority of reported LHON cases. Only approximately 50% of males and approximately 10% of females carrying these mutations develop optic neuropathy and blindness. Additional factors, such as mtDNA/nuclear genetic background and environmental modifiers, are likely to contribute toward the observed incomplete penetrance and gender bias. We aimed to investigate whether mtDNA haplogroup influences LHON clinical expression in Indian patients harboring the m.11778G>A mutation.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom