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Leigh Syndrome Summary

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In this study, the authors discovered a new gene mutation implicated in the onset of Leigh syndrome, a neurodegenerative disease caused by lesions in multiple parts of the central nervous system. The gene mutation was found in a girl with first-cousin parents. Since the girl did not contain mutations of the existing candidate genes for Leigh disease, whole-exome sequence was used to search for a novel homozygous mutation. It was discovered that the patient has a missense mutation in SLC25A46, a gene that codes for a mitochondrial metabolite carrier protein. The authors wanted to determine the role that mutant SLC25A46 has on causing Leigh syndrome. In addition, the authors wanted to make clear the molecular functions of wild-type SLC24A46. Since the onset of Leigh syndrome involves impairment…show more content…
Most candidate genes for Leigh syndrome code for the components and assembly proteins of the oxidative phosphorylation complexes in the mitochondria (cite). While the SLC25A46 protein is somehow involved in the assembly of the complexes, it is more directly involved in mitochondrial morphology. As a result, this study is one of the few examples where a gene not directly associated with oxidative phosphorylation can lead to Leigh syndrome. While the study connects the SLC25A46 gene to Leigh syndrome, it did not do much to investigate how the mutant gene lead to impairments in oxidative phosphorylation. The only finding was that the mutation lead to defective assembly of complex IV in the ETC. The authors could have further investigated SLC25A46’s role in complex IV assembly, leading to a better understanding of the mutant protein’s impact and the normal protein’s functions. In addition to connecting SLC25A46 to Leigh syndrome, this study’s investigation in the mutant gene’s loss of function elucidates the various roles that wild-type SLC25A46 has in the mitochondria. Other studies
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