Parkinson's Disease Gene Screening in Familial Cases from Central and South America

BACKGROUND: Parkinson's disease (PD) is the second most common neurodegenerative disease following Alzheimer's disease. Nearly 30 causative genes have been identified for PD and related disorders. However, most of these genes were identified in European-derived families, and little is know...

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Autores principales: Oswaldo Lorenzo‐Betancor, Seysha Mehta, Janvi Ramchandra, Sekinat Mumuney, Artur Francisco Schumacher Schuh, Mario Cornejo‐Olivas, Elison Sarapura‐Castro, Luis Torres, Miguel Inca‐Martinez, Pilar Mazzetti, Carlos Cosentino, Federico Micheli, Vítor Tumas, Elena Diéguez, Víctor Raggio, Vanderci Borges, Henrique Ballalai Ferraz, Pedro Chaná‐Cuevas, Marlene Jiménez-Del-Río, Carlos Velez‐Pardo, Sonia Moreno, Francisco Lopera, Jorge Luis Orozco-Velez, Beatriz Muñoz, Carlos Roberto de Mello Rieder, Alex Medina‐Escobar, Dora Yearout, Cyrus P. Zabetian, Ignácio F. Mata
Formato: Artículo
Lenguaje:inglés
Publicado: 2024
Materias:
Degenerative disease
Disease
Medicine
Parkinson's disease
Central nervous system disease
Pediatrics
Pathology
Internal medicine
Adult
Aged
Central America
Female
Genetic Testing methods
Humans
Male
Middle Aged
Parkinson Disease genetics
South America
Genetic Predisposition to Disease genetics
Life Sciences Neuroscience Neurology Neurological diseases and metabolism
Health Sciences Medicine Neurology Parkinson's Disease Mechanisms and Treatments
Life Sciences Biochemistry, Genetics and Molecular Biology Genetics Genomics and Rare Diseases
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Sumario:BACKGROUND: Parkinson's disease (PD) is the second most common neurodegenerative disease following Alzheimer's disease. Nearly 30 causative genes have been identified for PD and related disorders. However, most of these genes were identified in European-derived families, and little is known about their role in Latin American populations. OBJECTIVES: Our goal was to assess the spectrum and frequency of pathogenic variants in known PD genes in familial PD patients from Latin America. METHODS: We selected 335 PD patients with a family history of PD from the Latin American Research Consortium on the Genetics of PD. We capture-sequenced the coding regions of 26 genes related to neurodegenerative parkinsonism. Of the 335 PD patients, 324 had sufficient sequencing coverage to be analyzed. RESULTS: We identified pathogenic variants in 41 individuals (12.7%) in FBXO7, GCH1, LRRK2, PARK7, PINK1, PLA2G6, PRKN, SNCA, and TARDBP, GBA1 risk variants in 25 individuals (7.7%), and variants of uncertain significance in another 24 individuals (7.4%) in ATP13A2, ATP1A3, DNAJC13, DNAJC6, GBA1, LRKK2, PINK1, VPS13C, and VPS35. Of the 70 unique variants identified, 19 were more frequent in Latin Americans than in any other population. CONCLUSIONS: This is the first screening of known PD genes in a large cohort of patients with familial PD from Latin America. There were substantial differences in the spectrum of variants observed in comparison to previous findings from PD families of European origin. Our data provide further evidence that differences exist between the genetic architecture of PD in Latinos and European-derived populations. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

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