Leber’s hereditary optic neuropathy: Clinical and molecular profile of a Brazilian sample

Maciel‐Guerra, Andréa Trevas; Zanchetta, Luciene; Fernandes, Marcela Scabello Amaral; Andrade, Paula B.; Miranda, Paulo Maurício do Amôr Divino; Sartorato, Edi Lúcia

doi:10.3109/13816810.2010.483721

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“…We performed a systemic study of three primary LHON variants and analysed the same to understand their genetic heterogeneity and how their frequencies vary from one geographical location to another as a function of population, ethnicity, and study sample size. The study included a total of 42, 35, and 30 data points for m.11778G>A [ 3 , 9 , 10 , 11 , 14 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 61 ], m.14484T>C [ 3 , 8 , 11 , 14 , 26 , 27 , 29 , 31 , 33 , 34 , 35 ...…”

Section: Resultsmentioning

confidence: 99%

Mitochondrial Genetic Heterogeneity in Leber’s Hereditary Optic Neuropathy: Original Study with Meta-Analysis

Jha

Dawar

Hasan

et al. 2021

Genes

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Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disorder that causes loss of central vision. Three primary variants (m.3460G>A, m.11778G>A, and m.14484T>C) and about 16 secondary variants are responsible for LHON in the majority of the cases. We investigated the complete mitochondrial DNA (mtDNA) sequences of 189 LHON patients and found a total of 54 disease-linked pathogenic variants. The primary variants m.11778G>A and m.14484T>C were accountable for only 14.81% and 2.64% cases, respectively. Patients with these two variants also possessed additional disease-associated variants. Among 156 patients who lacked the three primary variants, 16.02% harboured other LHON-associated variants either alone or in combination with other disease-associated variants. Furthermore, we observed that none of the haplogroups were explicitly associated with LHON. We performed a meta-analysis of m.4216T>C and m.13708G>A and found a significant association of these two variants with the LHON phenotype. Based on this study, we recommend the use of complete mtDNA sequencing to diagnose LHON, as we found disease-associated variants throughout the mitochondrial genome.

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Section: Resultsmentioning

confidence: 99%

Mitochondrial Genetic Heterogeneity in Leber’s Hereditary Optic Neuropathy: Original Study with Meta-Analysis

Jha

Dawar

Hasan

et al. 2021

Genes

View full text Add to dashboard Cite

show abstract

Leber’s hereditary optic neuropathy: Clinical and molecular profile of a Brazilian sample

Abstract: The contribution of Amerindians and Africans to the Brazilian mtDNA pool may account for differences in the type and frequency of primary LHON mutations.

Cited by 1 publication

References 7 publications

Mitochondrial Genetic Heterogeneity in Leber’s Hereditary Optic Neuropathy: Original Study with Meta-Analysis

Mitochondrial Genetic Heterogeneity in Leber’s Hereditary Optic Neuropathy: Original Study with Meta-Analysis

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