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Invest Ophthalmol Vis Sci. 2013 Jun 10;54(6):3999-4005. doi: 10.1167/iovs.13-11925.

Haplogroup heterogeneity of LHON patients carrying the m.14484T>C mutation in India.

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1
CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India.

Abstract

PURPOSE:

To investigate the clinical and mitochondrial DNA (mtDNA) haplogroup background of Indian Leber hereditary optic neuropathy (LHON) patients carrying the m.14484T>C mutation.

METHODS:

Detailed clinical investigation and complete mtDNA sequencing analysis was carried out for eight Indian LHON families with the m.14484T>C mutation. Haplogroup was constructed based on the evolutionarily important mtDNA variants.

RESULTS:

In the present study, we characterized eight unrelated probands selected from 187 LHON cases. The overall penetrance of the disease was estimated to be 19.75% (16/81) in eight pedigrees with the m.14484T>C mutation and showed substantially higher sex bias (male: female = 13:3). The mtDNA haplogrouping revealed that they belong to diverse haplogroups; i.e., F1c1, M31a, U2a, M*, I1, M6, M3a1, and R30a. Interestingly, we did not find an association of the m.14484T>C mutation with any specific haplogroup within the Indian population. We also did not find any secondary mutation(s) in these pedigrees, which might affect the clinical expression of LHON.

CONCLUSIONS:

Contrary to earlier reports showing preferential association of the m.14484T>C mutation with western Eurasian haplogroup J and increased clinical penetrance when present in J1 subhaplogroup background, the present study shows that m.14484T>C arose independently in a different mtDNA haplogroup and ethnic background in India, which may influence the clinical expression of the disease.

KEYWORDS:

LHON; haplogroup; m.14484T>C; mtDNA; mutations

PMID:
23674761
DOI:
10.1167/iovs.13-11925
[Indexed for MEDLINE]
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