ArticleBMC neurology2014
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions.
Article in BMC neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 37 citations in OpenAlex.
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- The effect of somatic mutations in mitochondrial DNA on the survival of patients with primary brain tumors.Croatian medical journal · 2024Article
- Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree.Orphanet journal of rare diseases · 2024Article
- Red Flags in Primary Mitochondrial Diseases: What Should We Recognize?International journal of molecular sciences · 2023Review
- First mitochondrial genome-wide association study with metabolomics.Human molecular genetics · 2022Article
- Leber's hereditary optic neuropathy plus dystonia caused by the mitochondrial ND1 gene m.4160 T > C mutation.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- Factors Influencing Central Nervous System Abnormalities in m.11778G>A Carriers.Brain sciences · 2020Article
- Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.PLoS genetics · 2018Article
- ZIKV infection regulates inflammasomes pathway for replication in monocytes.Scientific reports · 2017Article
- Mitochondrial genetics and therapeutic overview of Leber's hereditary optic neuropathy.Indian journal of ophthalmology · 2017Review
- Gastrointestinal manifestations of mitochondrial disorders: a systematic review.Therapeutic advances in gastroenterology · 2017Review
- Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders.Neuropsychiatric disease and treatment · 2017Article
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Authors and funding
14 authors at 5 institutions in 1 country.
Funding
Abstract
backgroundAn increasing number of mitochondrial DNA (mtDNA) mutations, mainly in complex I genes, have been associated with variably overlapping phenotypes of Leber's hereditary optic neuropathy (LHON), mitochondrial encephalomyopathy with stroke-like episodes (MELAS) and Leigh syndrome (LS). We here describe the first case in which the m.4171C>A/MT-ND1 mutation, previously reported only in association with LHON, leads also to a Leigh-like phenotype. CASE PRESENTATION: A 16-year-old male suffered subacute visual loss and recurrent vomiting and vertigo associated with bilateral brainstem lesions affecting the vestibular nuclei. His mother and one sister also presented subacute visual loss compatible with LHON. Sequencing of the entire mtDNA revealed the homoplasmic m.4171C>A/MT-ND1 mutation, previously associated with pure LHON, on a haplogroup H background. Three additional non-synonymous homoplasmic transitions affecting ND2 (m.4705T>C/MT-ND2 and m.5263C>T/MT-ND2) and ND6 (m.14180T>C/MT-ND6) subunits, well recognized as polymorphisms in other mtDNA haplogroups but never found on the haplogroup H background, were also present.
conclusionThis case widens the phenotypic expression of the rare m.4171C>A/MT-ND1 LHON mutation, which may also lead to Leigh-like brainstem lesions, and indicates that the co-occurrence of other ND non-synonymous variants, found outside of their usual mtDNA backgrounds, may have increased the pathogenic potential of the primary LHON mutation.
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