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^*

^*Corresponding author for this work

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 - May 2021

Funding

Funders	Funder number
Aufzien Center
Chaya Charitable Fund
Sieratzki Family Foundation
National Institutes of Health
U.S. Department of Defense
National Institute of Mental Health
National Institute on Drug Abuse
National Heart, Lung, and Blood Institute
National Human Genome Research Institute
National Cancer Institute
National Institute of Neurological Disorders and Stroke
Michael J. Fox Foundation for Parkinson's Research
National Parkinson Foundation
Biogen
AbbVie
Israel Science Foundation
Tel Aviv University

Keywords

GBA
N370S
Parkinson's disease
Risk allele

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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

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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

Y1 - 2021/5

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

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