Pathogenic mechanisms of Leber hereditary optic neuropathy caused by m.3472T>C mutation

The m.3472T>C mutation contributes to the pathogenesis of LHON by disrupting the structural stability of ND1 in complex Ⅰ, leading to mitochondrial dysfunction.

Authors

Min‐Xin Guan (ORCID: https://orcid.org/0000-0001-5067-6736)
Wenqi Shan
Huanhuan Zhang (ORCID: https://orcid.org/0000-0001-5745-1775)

Institutions

Wenzhou Medical University (CN)
Zhejiang University (CN)

Publication Details

Journal: Journal of Zhejiang University (Medical Sciences)
Published: 2025-11-12
DOI: https://doi.org/10.3724/zdxbyxb-2025-0241
Primary Topic: Mitochondrial Function and Pathology
Type: article
Field-Weighted Citation Impact: 0.00

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article

Pathogenic mechanisms of Leber hereditary optic neuropathy caused by m.3472T>C mutation

Min‐Xin Guan, Wenqi Shan, Huanhuan Zhang

Nov 12, 2025

Journal of Zhejiang University (Medical Sciences)

Mitochondrial Function and Pathology

article

Pathogenic mechanisms of Leber hereditary optic neuropathy caused by m.3472T>C mutation

Min‐Xin Guan, Wenqi Shan, Huanhuan Zhang

November 12, 2025article en

Abstract

The m.3472T>C mutation contributes to the pathogenesis of LHON by disrupting the structural stability of ND1 in complex Ⅰ, leading to mitochondrial dysfunction.

Journal of Zhejiang University (Medical Sciences)Vol. 54(6)

Wenzhou Medical University (CN), Zhejiang University (CN)

Openalex Percentile: Top 70%

Mitochondrial Function and Pathology

DOI Open Access PDF OpenAlex

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Pathogenic mechanisms of Leber hereditary optic neuropathy caused by m.3472T>C mutation — Min‐Xin Guan, Wenqi Shan, et al. · Journal of Zhejiang University (Medical Sciences) (2025) | TGRS Research Map | TGRS

Pathogenic mechanisms of Leber hereditary optic neuropathy caused by m.3472T&gt;C mutation

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Publication Details

Pathogenic mechanisms of Leber hereditary optic neuropathy caused by m.3472T>C mutation

Pathogenic mechanisms of Leber hereditary optic neuropathy caused by m.3472T>C mutation

Abstract

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Pathogenic mechanisms of Leber hereditary optic neuropathy caused by m.3472T>C mutation