Identification of a mutation in LARS as a novel cause of infantile hepatopathy

Article ID	Journal	Published Year	Pages	File Type
10833785	Molecular Genetics and Metabolism	2012	8 Pages	PDF

Abstract

âº We studied 6 patients from an Irish Traveller family with an infantile hepatopathy. âº Despite their multisystem presentation, the patients have normal mitochondria. âº Homozygosity mapping and whole exome sequencing were performed. âº We identified a mutation inÂ LARSÂ as a new cause of infantile hepatopathy. âº Mutation testing ofÂ LARS should be considered in patients with infantile hepatopathy.

Keywords

MMP PDB BCAAs MELAS LARS ROS siRNA branched chain amino acids Aminoacyl-tRNA synthetase aaRS leuRS Mitochondrial Mitochondrial membrane potential Single nucleotide polymorphism SNP Reactive oxygen species

Related Topics

Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry

Preview

Identification of a mutation in LARS as a novel cause of infantile hepatopathy

Authors

Jillian P. Casey, Paul McGettigan, Niamh Lynam-Lennon, Michael McDermott, Regina Regan, Judith Conroy, Billy Bourke, Jacintha O' Sullivan, Ellen Crushell, SallyAnn Lynch, Sean Ennis,