High throughput sequencing identifies PINK1 p.G47R : a rare mutation identified in a Parkinson’s disease patient

Please use this identifier to cite or link to this item: https://www.um.edu.mt/library/oar/handle/123456789/93422

Title:	High throughput sequencing identifies PINK1 p.G47R : a rare mutation identified in a Parkinson’s disease patient
Authors:	Muscat, Y. Camilleri, G. Borg Carbott, Francesca Karen, C. Mallia, M. Vella, N. Bezzina Wettinger, Stephanie Farrugia, Rosienne
Keywords:	High-throughput nucleotide sequencing Parkinson's disease -- Genetic aspects Mutation (Biology)
Issue Date:	2019-07
Publisher:	Springer Nature Limited
Citation:	Muscat, Y., Camilleri, G., Carbott, F. B., Karen, C., Mallia, M., Vella, N., ... Farrugia, R. (2019). High throughput sequencing identifies PINK1 p.G47R : a rare mutation identified in a Parkinson’s disease patient. European Journal of Human Genetics, 27(s1), 968.
Abstract:	INTRODUCTION: Heterozygous mutations in PTEN induced kinase-1 (PINK1) reportedly increase risk for late-onset Parkinson disease (PD). PINK1 localises to the mitochondria, recruiting and phosphorylating Parkin leading to mitophagy of damaged mitochondria. Mutations in PINK1 abolish such effect, increasing the vulnerability of cells to oxidative stress. METHODS: High throughput sequencing (HTS) of PD related genes identified an extremely rare mutation, c. G139C:p.G47R in exon 1 of PINK1. The Maltese Geoparkinson collection (158 patients, 378 matched controls) was genotyped for this variant by PCR and RFLP using Hpy166II. [excerpt]
URI:	https://www.um.edu.mt/library/oar/handle/123456789/93422
Appears in Collections:	Scholarly Works - FacHScABS

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