We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions.
- Authors
La Morgia, Chiara; Caporali, Leonardo; Gandini, Francesca; Olivieri, Anna; Toni, Francesco; Nassetti, Stefania; Brunetto, Daniela; Stipa, Carlotta; Scaduto, Cristina; Parmeggiani, Antonia; Tonon, Caterina; Lodi, Raffaele; Torroni, Antonio; Carelli, Valerio
- Abstract
<bold>Background: </bold>An 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.<bold>Case Presentation: </bold>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.<bold>Conclusion: </bold>This 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.
- Publication
BMC Neurology, 2014, Vol 14, Issue 1, p116
- ISSN
1471-2377
- Publication type
journal article
- DOI
10.1186/1471-2377-14-116