The GBA-370Rec Parkinson's disease risk haplotype harbors a potentially pathogenic variant in the mitochondrial gene SLC25A44

Orly Goldstein; Mali Gana-Weisz; Reut Attar; Anat Bar-Shira; Martine Lederkremer; Tamara Shiner; Avner Thaler; Anat Mirelman; Nir Giladi; Avi Orr-Urtreger

doi:10.1016/j.ymgme.2021.03.012

The GBA-370Rec Parkinson's disease risk haplotype harbors a potentially pathogenic variant in the mitochondrial gene SLC25A44

Orly Goldstein, Mali Gana-Weisz, Reut Attar, Anat Bar-Shira, Martine Lederkremer, Tamara Shiner, Avner Thaler, Anat Mirelman, Nir Giladi, Avi Orr-Urtreger

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Abstract

GBA variations are common risk factors for Parkinson's disease (PD), and are found in 21.7% of Ashkenazi PD patients (AJ-PD), 4.23% of them carry an allele, 370Rec, which is different from the common GBA-N370S allele. Using whole-genome-sequencing of 370Rec carriers, N370S carriers, and non-carriers, we characterize the unique 370Rec haplotype in AJ-PDs, and show that it harbors a missense variant replacing the highly conserved methionine-27 with valine in the transmembrane domain of the mitochondrial SLC25A44.

Original language	English
Pages (from-to)	109-112
Number of pages	4
Journal	Molecular Genetics and Metabolism
Volume	133
Issue number	1
DOIs	https://doi.org/10.1016/j.ymgme.2021.03.012
State	Published - 1 May 2021
Externally published	Yes

Keywords

GBA
N370S
Parkinson's disease
Risk allele

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Biochemistry
Molecular Biology
Genetics
Endocrinology

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10.1016/j.ymgme.2021.03.012

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Goldstein, O., Gana-Weisz, M., Attar, R., Bar-Shira, A., Lederkremer, M., Shiner, T., Thaler, A., Mirelman, A., Giladi, N., & Orr-Urtreger, A. (2021). The GBA-370Rec Parkinson's disease risk haplotype harbors a potentially pathogenic variant in the mitochondrial gene SLC25A44. Molecular Genetics and Metabolism, 133(1), 109-112. https://doi.org/10.1016/j.ymgme.2021.03.012

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title = "The GBA-370Rec Parkinson's disease risk haplotype harbors a potentially pathogenic variant in the mitochondrial gene SLC25A44",

abstract = "GBA variations are common risk factors for Parkinson's disease (PD), and are found in 21.7% of Ashkenazi PD patients (AJ-PD), 4.23% of them carry an allele, 370Rec, which is different from the common GBA-N370S allele. Using whole-genome-sequencing of 370Rec carriers, N370S carriers, and non-carriers, we characterize the unique 370Rec haplotype in AJ-PDs, and show that it harbors a missense variant replacing the highly conserved methionine-27 with valine in the transmembrane domain of the mitochondrial SLC25A44.",

keywords = "GBA, N370S, Parkinson's disease, Risk allele",

author = "Orly Goldstein and Mali Gana-Weisz and Reut Attar and Anat Bar-Shira and Martine Lederkremer and Tamara Shiner and Avner Thaler and Anat Mirelman and Nir Giladi and Avi Orr-Urtreger",

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doi = "10.1016/j.ymgme.2021.03.012",

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Goldstein, O, Gana-Weisz, M, Attar, R, Bar-Shira, A, Lederkremer, M, Shiner, T, Thaler, A, Mirelman, A, Giladi, N & Orr-Urtreger, A 2021, 'The GBA-370Rec Parkinson's disease risk haplotype harbors a potentially pathogenic variant in the mitochondrial gene SLC25A44', Molecular Genetics and Metabolism, vol. 133, no. 1, pp. 109-112. https://doi.org/10.1016/j.ymgme.2021.03.012

TY - JOUR

T1 - The GBA-370Rec Parkinson's disease risk haplotype harbors a potentially pathogenic variant in the mitochondrial gene SLC25A44

AU - Goldstein, Orly

AU - Gana-Weisz, Mali

AU - Attar, Reut

AU - Bar-Shira, Anat

AU - Lederkremer, Martine

AU - Shiner, Tamara

AU - Thaler, Avner

AU - Mirelman, Anat

AU - Giladi, Nir

AU - Orr-Urtreger, Avi

PY - 2021/5/1

Y1 - 2021/5/1

N2 - GBA variations are common risk factors for Parkinson's disease (PD), and are found in 21.7% of Ashkenazi PD patients (AJ-PD), 4.23% of them carry an allele, 370Rec, which is different from the common GBA-N370S allele. Using whole-genome-sequencing of 370Rec carriers, N370S carriers, and non-carriers, we characterize the unique 370Rec haplotype in AJ-PDs, and show that it harbors a missense variant replacing the highly conserved methionine-27 with valine in the transmembrane domain of the mitochondrial SLC25A44.

AB - GBA variations are common risk factors for Parkinson's disease (PD), and are found in 21.7% of Ashkenazi PD patients (AJ-PD), 4.23% of them carry an allele, 370Rec, which is different from the common GBA-N370S allele. Using whole-genome-sequencing of 370Rec carriers, N370S carriers, and non-carriers, we characterize the unique 370Rec haplotype in AJ-PDs, and show that it harbors a missense variant replacing the highly conserved methionine-27 with valine in the transmembrane domain of the mitochondrial SLC25A44.

KW - GBA

KW - N370S

KW - Parkinson's disease

KW - Risk allele

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U2 - 10.1016/j.ymgme.2021.03.012

DO - 10.1016/j.ymgme.2021.03.012

M3 - Article

C2 - 33762134

AN - SCOPUS:85103314113

SN - 1096-7192

VL - 133

SP - 109

EP - 112

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

IS - 1

ER -

The GBA-370Rec Parkinson's disease risk haplotype harbors a potentially pathogenic variant in the mitochondrial gene SLC25A44

Abstract

Keywords

ASJC Scopus subject areas

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