Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation: a case report
<p>Abstract</p> <p>Background</p> <p>Leigh Syndrome (LS) is a severe neurodegenerative disorder characterized by bilateral symmetrical necrotic lesions in the basal ganglia and brainstem. Onset is in early infancy and prognosis is poor. Causative mutations have been dis...
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| Series: | BMC Neurology |
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| Online Access: | http://www.biomedcentral.com/1471-2377/11/85 |
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doaj-3e81478040f2471a847c8fb3c49c64c72020-11-25T02:28:17ZengBMCBMC Neurology1471-23772011-07-011118510.1186/1471-2377-11-85Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation: a case reportMoggio MaurizioCapovilla GiuseppeCagdas SophieCollotta MartinaSciacco MonicaRizzuti MafaldaFortunato FrancescoBordoni AndreinaOrcesi SimonaTonduti DavideCosi AlessandraRonchi DarioBerardinelli AngelaVeggiotti PierangeloComi Giacomo P<p>Abstract</p> <p>Background</p> <p>Leigh Syndrome (LS) is a severe neurodegenerative disorder characterized by bilateral symmetrical necrotic lesions in the basal ganglia and brainstem. Onset is in early infancy and prognosis is poor. Causative mutations have been disclosed in mitochondrial DNA and nuclear genes affecting respiratory chain subunits and assembly factors.</p> <p>Case presentation</p> <p>Here we report the clinical and molecular features of a 15-month-old female LS patient. Direct sequencing of her muscle-derived mtDNA revealed the presence of two apparently homoplasmic variants: the novel m.14792C > G and the already known m.14459G > A resulting in p.His16Asp change in cytochrome b (MT-CYB) and p.Ala72Val substitution in ND6 subunit, respectively. The m.14459G > A was heteroplasmic in the mother's blood-derived DNA.</p> <p>Conclusions</p> <p>The m.14459G > A might lead to LS, complicated LS or Leber Optic Hereditary Neuropathy. A comprehensive re-evaluation of previously described 14459G > A-mutated patients does not explain this large clinical heterogeneity.</p> http://www.biomedcentral.com/1471-2377/11/85Leigh Syndromemitochondrial DNALHONMT-ND6MT-CYBmitochondrial Complex I |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Moggio Maurizio Capovilla Giuseppe Cagdas Sophie Collotta Martina Sciacco Monica Rizzuti Mafalda Fortunato Francesco Bordoni Andreina Orcesi Simona Tonduti Davide Cosi Alessandra Ronchi Dario Berardinelli Angela Veggiotti Pierangelo Comi Giacomo P |
| spellingShingle |
Moggio Maurizio Capovilla Giuseppe Cagdas Sophie Collotta Martina Sciacco Monica Rizzuti Mafalda Fortunato Francesco Bordoni Andreina Orcesi Simona Tonduti Davide Cosi Alessandra Ronchi Dario Berardinelli Angela Veggiotti Pierangelo Comi Giacomo P Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation: a case report BMC Neurology Leigh Syndrome mitochondrial DNA LHON MT-ND6 MT-CYB mitochondrial Complex I |
| author_facet |
Moggio Maurizio Capovilla Giuseppe Cagdas Sophie Collotta Martina Sciacco Monica Rizzuti Mafalda Fortunato Francesco Bordoni Andreina Orcesi Simona Tonduti Davide Cosi Alessandra Ronchi Dario Berardinelli Angela Veggiotti Pierangelo Comi Giacomo P |
| author_sort |
Moggio Maurizio |
| title |
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation: a case report |
| title_short |
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation: a case report |
| title_full |
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation: a case report |
| title_fullStr |
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation: a case report |
| title_full_unstemmed |
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation: a case report |
| title_sort |
clinical and molecular features of an infant patient affected by leigh disease associated to m.14459g > a mitochondrial dna mutation: a case report |
| publisher |
BMC |
| series |
BMC Neurology |
| issn |
1471-2377 |
| publishDate |
2011-07-01 |
| description |
<p>Abstract</p> <p>Background</p> <p>Leigh Syndrome (LS) is a severe neurodegenerative disorder characterized by bilateral symmetrical necrotic lesions in the basal ganglia and brainstem. Onset is in early infancy and prognosis is poor. Causative mutations have been disclosed in mitochondrial DNA and nuclear genes affecting respiratory chain subunits and assembly factors.</p> <p>Case presentation</p> <p>Here we report the clinical and molecular features of a 15-month-old female LS patient. Direct sequencing of her muscle-derived mtDNA revealed the presence of two apparently homoplasmic variants: the novel m.14792C > G and the already known m.14459G > A resulting in p.His16Asp change in cytochrome b (MT-CYB) and p.Ala72Val substitution in ND6 subunit, respectively. The m.14459G > A was heteroplasmic in the mother's blood-derived DNA.</p> <p>Conclusions</p> <p>The m.14459G > A might lead to LS, complicated LS or Leber Optic Hereditary Neuropathy. A comprehensive re-evaluation of previously described 14459G > A-mutated patients does not explain this large clinical heterogeneity.</p> |
| topic |
Leigh Syndrome mitochondrial DNA LHON MT-ND6 MT-CYB mitochondrial Complex I |
| url |
http://www.biomedcentral.com/1471-2377/11/85 |
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