2020
DOI: 10.1186/s13023-020-1297-9
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Molecular basis of Leigh syndrome: a current look

Abstract: Leigh Syndrome (OMIM 256000) is a heterogeneous neurologic disorder due to damage in mitochondrial energy production that usually starts in early childhood. The first description given by Leigh pointed out neurological symptoms in children under 2 years and premature death. Following cases brought some hypothesis to explain the cause due to similarity to other neurological diseases and led to further investigation for metabolic diseases. Biochemical evaluation and specific metabolic profile suggested impairmen… Show more

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Cited by 84 publications
(72 citation statements)
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References 109 publications
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“…Leigh syndrome or subacute necrotizing encephalopathy, is a neurodegenerative disease with broad phenotype and genotype presentations; >75 genes, encoded either by the mtDNA or the nDNA, have been reported to account for the disease 34 . The classical form has an early onset (<age 2), and presents with hypotonia, epilepsy, respiratory stress, neurodevelopmental delay, ataxia, and lactic acidosis; the late‐form has a more heterogeneous presentation, with behavioral/psychiatric manifestations, cognitive decline, movement disorders, headaches, or memory loss; it may even mimic multiple sclerosis 35 . Ataxia, ophthalmoplegia and CM seem to be more prevalent among patients with mtDNA defects 34 .…”
Section: Primary Mitochondrial Diseasesmentioning
confidence: 99%
See 1 more Smart Citation
“…Leigh syndrome or subacute necrotizing encephalopathy, is a neurodegenerative disease with broad phenotype and genotype presentations; >75 genes, encoded either by the mtDNA or the nDNA, have been reported to account for the disease 34 . The classical form has an early onset (<age 2), and presents with hypotonia, epilepsy, respiratory stress, neurodevelopmental delay, ataxia, and lactic acidosis; the late‐form has a more heterogeneous presentation, with behavioral/psychiatric manifestations, cognitive decline, movement disorders, headaches, or memory loss; it may even mimic multiple sclerosis 35 . Ataxia, ophthalmoplegia and CM seem to be more prevalent among patients with mtDNA defects 34 .…”
Section: Primary Mitochondrial Diseasesmentioning
confidence: 99%
“…34 The classical form has an early onset (<age 2), and presents with hypotonia, epilepsy, respiratory stress, neurodevelopmental delay, ataxia, and lactic acidosis; the late-form has a more heterogeneous presentation, with behavioral/psychiatric manifestations, cognitive decline, movement disorders, headaches, or memory loss; it may even mimic multiple sclerosis. 35 Ataxia, ophthalmoplegia and CM seem to be more prevalent among patients with mtDNA defects. 34 Hypertrophic or dilated CM is reported in~10% of patients and is twice as prevalent in patients with mtDNA mutations compared with the nDNA group.…”
mentioning
confidence: 97%
“…Our work shows that loss of epn-1 impacts postsynaptic function by having opposing effects on the abundance of postsynaptic L-AChRs and GABA A Rs. Notably, our screen also identified C. elegans homologs of genes mutated in congenital myasthenic syndrome (AChR), congenital muscular dystrophy (Mannose-1-phosphate guanyltransferase beta), congenital myopathy (Cofilin), myotonic dystrophy (ELAV-type RNA binding protein), and mitochondrial myopathy (NADH dehydrogenase) (Lu et al 1999;Milne and Hodgkin 1999;Agrawal et al 2007;Ockeloen et al 2012;Carss et al 2013;Engel et al 2015;Schubert and Vilarinho 2020). This suggests that altered response to levamisole can be used broadly to discover and study genes that impact muscle function.…”
Section: Resultsmentioning
confidence: 79%
“…Although some results from OXPHOS functionality experiments were similar in both families, we particularly found very reduced levels of the NDUFA13 protein in the patient's fibroblasts (90% of control), while the first family had a less severe decrease (mean reduction in both sisters was 70% of control). Alternatively, factors other than OXPHOS dysfunction may influence the differential phenotype expression [38]. Our results from SC assembly studies in cultured fibroblasts are similar to those found in the first family reported (i.e., loss of CI stability and diminished formation of the respirasome [I+III 2 +IV 1-2 ]), which supports that the NDUFA13 protein might play a critical role in the assembly or stability of the respirasomes, as previously shown in NDUFA13 knockout HEK293T cells [39].…”
Section: Discussionmentioning
confidence: 99%