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New MT-ND1 pathologic mutation for Leber hereditary optic neuropathy.

Íñigo Martínez-Romero¹, M Dolores Herrero-Martín, Laura Llobet

¹Departamento de Bioquímica, Biología Molecular y Celular and Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Zaragoza, Spain.

Clinical & Experimental Ophthalmology

|May 8, 2014

Summary

A novel mitochondrial DNA mutation, m.3472T>C in the MT-ND1 gene, is identified as the cause of Leber hereditary optic neuropathy in a patient lacking common mutations. This finding expands the known genetic causes of this vision disorder.

Keywords:

Leber hereditary optic neuropathy mitochondrial DNA mutation respiratory complex I

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Area of Science:

Genetics
Ophthalmology
Mitochondrial Biology

Background:

Leber hereditary optic neuropathy (LHON) is typically caused by homoplasmic mitochondrial DNA mutations with incomplete penetrance.
Many LHON patients lack a family history, and mutations often don't fully explain the cellular phenotype in cybrid models.
This study investigates a patient with classic LHON symptoms but without the three most common mitochondrial DNA mutations.

Observation:

Clinical diagnosis of Leber hereditary optic neuropathy was confirmed.
Comprehensive mitochondrial DNA sequencing was performed.
Extensive analysis of a candidate mutation was conducted across diverse populations and species.

Findings:

A novel m.3472T>C transition in the MT-ND1 gene was identified, altering phenylalanine to leucine at position 56.
Bioinformatics, molecular-genetic analysis, and functional studies in a cybrid model strongly implicate this mutation as the etiological factor.
The mutation was analyzed in over 18,000 individuals globally and its conservation was assessed in over 3,100 species.

Implications:

This discovery expands the spectrum of pathogenic mitochondrial DNA mutations associated with Leber hereditary optic neuropathy.
It underscores the challenges in attributing pathogenicity to novel homoplasmic mutations, especially in sporadic cases with incomplete penetrance.
Highlights the importance of comprehensive genetic screening beyond common mutations for diagnosing LHON.