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

Molecular genetics and metabolism 2021 May

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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. Copyright © 2021 Elsevier Inc. All rights reserved.

Citation

Orly Goldstein, Mali Gana-Weisz, Reut Attar, Anat Bar-Shira, Martine Lederkremer, Tamara Shiner, Avner Thaler, Anat Mirelman, Nir Giladi, Avi Orr-Urtreger. The GBA-370Rec Parkinson's disease risk haplotype harbors a potentially pathogenic variant in the mitochondrial gene SLC25A44. Molecular genetics and metabolism. 2021 May;133(1):109-112