RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses
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Abstract
Background Parkinson's disease is a progressive neurodegenerative disorder with multifactorial causes, among which genetic risk factors play a part. The RAB GTPases are regulators and substrates of LRRK2, and variants in the LRRK2 gene are important risk factors for Parkinson's disease. We aimed to explore genetic variability in RAB GTPases within cases of familial Parkinson's disease. Methods We did whole-exome sequencing in probands from families in Canada and Tunisia with Parkinson's disease without a genetic cause, who were recruited from the Centre for Applied Neurogenetics (Vancouver, BC, Canada), an international consortium that includes people with Parkinson's disease from 36 sites in 24 countries. 61 RAB GTPases were genetically screened, and candidate variants were genotyped in relatives of the probands to assess disease segregation by linkage analysis. Genotyping was also done to assess variant frequencies in individuals with idiopathic Parkinson's disease and controls, matched for age and sex, who were also from the Centre for Applied Neurogenetics but unrelated to the probands or each other. All participants were aged 18 years or older. The sequencing and genotyping findings were validated by case–control association analyses using bioinformatic data obtained from publicly available clinicogenomic databases (AMP-PD, GP2, and 100 000 Genomes Project) and a private German clinical diagnostic database (University of Tübingen). Clinical and pathological findings were summarised and haplotypes were determined. In-vitro studies were done to investigate protein interactions and enzyme activities. Findings Between June 1, 2010, and May 31, 2017, 130 probands from Canada and Tunisia (47 [36%] female and 83 [64%] male; mean age 72·7 years [SD 11·7; range 38–96]; 109 White European ancestry, 18 north African, two east Asian, and one Hispanic] underwent whole-exome sequencing. 15 variants in RAB GTPase genes were identified, of which the RAB32 variant c.213C>G (Ser71Arg) cosegregated with autosomal dominant Parkinson's disease in three families (nine affected individuals; non-parametric linkage Z score=1·95; p=0·03). 2604 unrelated individuals with Parkinson's disease and 344 matched controls were additionally genotyped, and five more people originating from five countries (Canada, Italy, Poland, Turkey, and Tunisia) were identified with the RAB32 variant. From the database searches, in which 6043 individuals with Parkinson's disease and 62 549 controls were included, another eight individuals were identified with the RAB32 variant from four countries (Canada, Germany, UK, and USA). Overall, the association of RAB32 c.213C>G (Ser71Arg) with Parkinson's disease was significant (odds ratio [OR] 13·17, 95% CI 2·15–87·23; p=0·0055; I 2 =99·96%). In the people who had the variant, Parkinson's disease presented at age 54·6 years (SD 12·75, range 31–81, n=16), and two-thirds had a family history of parkinsonism. RAB32 Ser71Arg heterozygotes shared a common haplotype, although penetrance was incomplete. Findings in one individual at autopsy showed sparse neurofibrillary tangle pathology in the midbrain and thalamus, without Lewy body pathology. In functional studies, RAB32 Arg71 activated LRRK2 kinase to a level greater than RAB32 Ser71. Interpretation RAB32 Ser71Arg is a novel genetic risk factor for Parkinson's disease, with reduced penetrance. The variant was found in individuals with Parkinson's disease from multiple ethnic groups, with the same haplotype. In-vitro assays show that RAB32 Arg71 activates LRRK2 kinase, which indicates that genetically distinct causes of familial parkinsonism share the same mechanism. The discovery of RAB32 Ser71Arg also suggests several genetically inherited causes of Parkinson's disease originated to control intracellular immunity. This shared aetiology should be considered in future translational research, while the global epidemiology of RAB32 Ser71Arg needs to be assessed to inform genetic counselling. Funding National Institutes of Health, the Canada Excellence Research Chairs program, Aligning Science Across Parkinson's, the Michael J Fox Foundation for Parkinson's Research, and the UK Medical Research Council.
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The space-time continuum in neurological disorders of the autophagosome-lysosome fusion machinery
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Self-citationRAB32 mutation in Parkinson's disease
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Self-citationConfirmation of RAB32 Ser71Arg Involvement in Parkinson's Disease
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RAB32 mutation in Parkinson's disease
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RAB32 mutation in Parkinson's disease
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Lysosomal swelling triggers LRRK2 activityPreprint
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From disease to syndrome: the evolution of Parkinson’s as a heterogeneous entity
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Recent advances in the genetics of Parkinson's disease in underrepresented populations
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RAB32 mutation in Parkinson's disease
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WES-Based Screening of a Swedish Patient Series with Parkinson’s Disease
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USP25 inhibition ameliorates Parkinson’s disease by restoring mitophagy
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Modifier gene identification reveals therapeutic pathways for adult and childhood dementias
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How to discover novel genes that cause Parkinson’s disease
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Self-citationDYRK1A and Parkinson’s disease, facts and hypotheses
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Tracking Genetic Parkinson's Disease with Molecular Imaging: A Systematic Review
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The Genetic Epidemiology of Parkinson's Disease view
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Self-citationCharacterization of Dnajc12 knock-out mice, a model of hypodopaminergiaPreprint
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Self-citationNew gene involved in the pathogenesis of Parkinson's disease
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A rare variant in the UQCRC1 gene, p.(Gly405Val) in three Austrian Parkinson's patients
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Engine breakdown of lysosomes and related organelles and the resulting physiology
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Ethnic and Epidemiological Peculiarities of Movement Disorders across the World
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Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants
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Self-citationMapping the Parkinson's pandemic: Unveiling and addressing the global burden
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Genetic-based diagnostics of Parkinson’s disease and other Parkinsonian syndromes
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LRRK2 is activated by phosphatidylinositol 3-phosphate in conjunction with CASMPreprint
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RAB32 mutation in Parkinson's disease – Author's reply
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Self-citationRAB32 Variants in a Chinese Parkinson's Disease Cohort
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Upper GI Mucosal Damage Greatly Increases Risk of Parkinson's Decades Later
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The Genetic Epidemiology of Parkinson's Disease view – Authors' reply
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Bilateral subthalamic deep brain stimulation in Parkinson's disease with RAB32 mutation
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Atmospheric Pollution: Current Knowledge Causes, Effects, and Relevance
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- Authors
- Gustavsson, E. K., Follett, J., Trinh, J., Barodia, S. K., Real, R., Liu, Z., Grant-Peters, M., Fox, J. D., Appel-Cresswell, S., Stoessl, A. J., Rajput, A., Rajput, A. H., Auer, R., Tilney, R., Sturm, M., Haack, T. B., Lesage, S., Tesson, C., Brice, A., Vilariño-Güell, C., Ryten, M., Goldberg, M. S., West, A. B., Hu, M. T., Morris, H. R., Sharma, M., Gan-Or, Z., Samanci, B., Lis, P., Periñan, M. T., Amouri, R., Ben Sassi, S., Hentati, F., Tonelli, F., Alessi, D. R., & Farrer, M. J.
- Affiliations
- University of British Columbia (CA)
- University of Alabama at Birmingham (US)
- Aligning Science Across Parkinson's (US)
- Saskatchewan Health Authority (CA)
- UCL Queen Square Institute of Neurology (GB)
- University of Tübingen (DE)
- Centre National de la Recherche Scientifique (FR)
- UCL Biomedical Research Centre (GB)
- Duke University (US)
- University of Oxford (GB)
- Hôpital La Rabta (TN)
- University of Dundee (GB)
- Corresponding author
- Farrer, Matthew J
- ORCID
- Gustavsson, Emil K
- Follett, Jordan
- Trinh, Joanne
- Barodia, Sandeep K
- Real, Raquel
- Liu, Zhiyong
- Fox, Jesse D
- Stoessl, A Jon
- Rajput, Alex
- Auer, Roland
- Tilney, Russel
- Sturm, Marc
- Haack, Tobias B
- Lesage, Suzanne
- Tesson, Christelle
- Brice, Alexis
- Ryten, Mina
- Goldberg, Matthew S
- West, Andrew B
- Hu, Michele T
- Morris, Huw R
- Sharma, Manu
- Amouri, Rim
- Tonelli, Francesca
- Alessi, Dario R
- Farrer, Matthew J
- Venue
- The Lancet Neurology
- Publisher
- Elsevier BV
- Published
- 2024-06
- Volume
- 23
- Issue
- 6
- Pages
- 603-614
- ISSN
- 1474-4422 (ISSN-L)
- PMC
- PMC10827257
- OpenAlex
- W4394695501
- Cited by
- 114
- References
- 42
- Citations by year
- 2026: 28 · 2025: 51 · 2024: 35
- FWCI
- 30.50
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- The Lancet Neurology (publishedVersion, cc-by)
- medRxiv (acceptedVersion, cc-by)
- PubMed (publishedVersion)
- PubMed Central (publishedVersion, cc-by)
- UCL Discovery (University College London) (submittedVersion, cc-by)
- PubMed Central (submittedVersion, cc-by)
- Discovery Research Portal (University of Dundee) (submittedVersion, cc-by)
- Funders
- Canadian Institutes of Health Research
- UKRI Medical Research Council
- Aligning Science Across Parkinson's
- Topics
- Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Nuclear Receptors and Signaling
- Health Sciences › Medicine › Neurology › Neurological disorders and treatments
- Keywords
- Parkinson's disease, Rab32, Rab GTPases, autosomal dominant inheritance, familial Parkinson's disease, genetic linkage, genetic association, LRRK2, haplotype analysis, protein-protein interaction, genetic risk factors, exome sequencing, case-control association, haplotype phasing
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