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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2024
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| author | 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 |
| author_browse | Alex Medina‐Escobar Artur Francisco Schumacher Schuh Beatriz Muñoz Carlos Cosentino Carlos Roberto de Mello Rieder Carlos Velez‐Pardo Cyrus P. Zabetian Dora Yearout Elena Diéguez Elison Sarapura‐Castro Federico Micheli Francisco Lopera Henrique Ballalai Ferraz Ignácio F. Mata Janvi Ramchandra Jorge Luis Orozco-Velez Luis Torres Mario Cornejo‐Olivas Marlene Jiménez-Del-Río Miguel Inca‐Martinez Oswaldo Lorenzo‐Betancor Pedro Chaná‐Cuevas Pilar Mazzetti Sekinat Mumuney Seysha Mehta Sonia Moreno Vanderci Borges Víctor Raggio Vítor Tumas |
| author_facet | 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 |
| author_sort | Oswaldo Lorenzo‐Betancor |
| collection | Producción científica |
| description | 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. |
| format | Article |
| id | oai:cris.upeu.edu.pe:20.500.15037/1359 |
| institution | UPeU |
| language | English |
| publishDate | 2024 |
| publishDateRange | 2024 |
| publishDateSort | 2024 |
| record_format | dspace |
| spelling | oai:cris.upeu.edu.pe:20.500.15037/13592026-10-30T16:15:39ZParkinson's Disease Gene Screening in Familial Cases from Central and South AmericaOswaldo Lorenzo‐BetancorSeysha MehtaJanvi RamchandraSekinat MumuneyArtur Francisco Schumacher SchuhMario Cornejo‐OlivasElison Sarapura‐CastroLuis TorresMiguel Inca‐MartinezPilar MazzettiCarlos CosentinoFederico MicheliVítor TumasElena DiéguezVíctor RaggioVanderci BorgesHenrique Ballalai FerrazPedro Chaná‐CuevasMarlene Jiménez-Del-RíoCarlos Velez‐PardoSonia MorenoFrancisco LoperaJorge Luis Orozco-VelezBeatriz MuñozCarlos Roberto de Mello RiederAlex Medina‐EscobarDora YearoutCyrus P. ZabetianIgnácio F. MataDegenerative diseaseDiseaseMedicineParkinson's diseaseCentral nervous system diseasePediatricsPathologyInternal medicineDegenerative diseaseDiseaseMedicineParkinson's diseaseCentral nervous system diseasePediatricsPathologyInternal medicineAdultAdultAdultAdultAdultAdultAdultAgedAgedAgedAgedAgedAgedAgedCentral AmericaCentral AmericaCentral AmericaCentral AmericaCentral AmericaCentral AmericaCentral AmericaFemaleFemaleFemaleFemaleFemaleFemaleFemaleGenetic Testing methodsGenetic Testing methodsGenetic Testing methodsGenetic Testing methodsGenetic Testing methodsGenetic Testing methodsGenetic Testing methodsHumansHumansHumansHumansHumansHumansHumansMaleMaleMaleMaleMaleMaleMaleMiddle AgedMiddle AgedMiddle AgedMiddle AgedMiddle AgedMiddle AgedMiddle AgedParkinson Disease geneticsParkinson Disease geneticsParkinson Disease geneticsParkinson Disease geneticsParkinson Disease geneticsParkinson Disease geneticsParkinson Disease geneticsSouth AmericaSouth AmericaSouth AmericaSouth AmericaSouth AmericaSouth AmericaSouth AmericaGenetic Predisposition to Disease geneticsGenetic Predisposition to Disease geneticsGenetic Predisposition to Disease geneticsGenetic Predisposition to Disease geneticsGenetic Predisposition to Disease geneticsGenetic Predisposition to Disease geneticsGenetic Predisposition to Disease geneticsLife Sciences Neuroscience Neurology Neurological diseases and metabolismHealth Sciences Medicine Neurology Parkinson's Disease Mechanisms and TreatmentsLife Sciences Biochemistry, Genetics and Molecular Biology Genetics Genomics and Rare DiseasesBACKGROUND: 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.Articlehttps://pubmed.ncbi.nlm.nih.gov/39051491https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mds.29931https://doi.org/10.1002/mds.2993110.1002/mds.29931https://hdl.handle.net/20.500.15037/1359W4400984468enMovement Disorders0885-31851531-82572024-07-252026-06-13T09:55:12Z2026-06-13T09:55:12Z |
| spellingShingle | Degenerative disease Disease Medicine Parkinson's disease Central nervous system disease Pediatrics Pathology Internal medicine Degenerative disease Disease Medicine Parkinson's disease Central nervous system disease Pediatrics Pathology Internal medicine Adult Adult Adult Adult Adult Adult Adult Aged Aged Aged Aged Aged Aged Aged Central America Central America Central America Central America Central America Central America Central America Female Female Female Female Female Female Female Genetic Testing methods Genetic Testing methods Genetic Testing methods Genetic Testing methods Genetic Testing methods Genetic Testing methods Genetic Testing methods Humans Humans Humans Humans Humans Humans Humans Male Male Male Male Male Male Male Middle Aged Middle Aged Middle Aged Middle Aged Middle Aged Middle Aged Middle Aged Parkinson Disease genetics Parkinson Disease genetics Parkinson Disease genetics Parkinson Disease genetics Parkinson Disease genetics Parkinson Disease genetics Parkinson Disease genetics South America South America South America South America South America South America South America Genetic Predisposition to Disease genetics Genetic Predisposition to Disease genetics Genetic Predisposition to Disease genetics Genetic Predisposition to Disease genetics Genetic Predisposition to Disease genetics Genetic Predisposition to Disease genetics 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 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 Parkinson's Disease Gene Screening in Familial Cases from Central and South America |
| title | Parkinson's Disease Gene Screening in Familial Cases from Central and South America |
| title_full | Parkinson's Disease Gene Screening in Familial Cases from Central and South America |
| title_fullStr | Parkinson's Disease Gene Screening in Familial Cases from Central and South America |
| title_full_unstemmed | Parkinson's Disease Gene Screening in Familial Cases from Central and South America |
| title_short | Parkinson's Disease Gene Screening in Familial Cases from Central and South America |
| title_sort | parkinson apos s disease gene screening in familial cases from central and south america |
| topic | Degenerative disease Disease Medicine Parkinson's disease Central nervous system disease Pediatrics Pathology Internal medicine Degenerative disease Disease Medicine Parkinson's disease Central nervous system disease Pediatrics Pathology Internal medicine Adult Adult Adult Adult Adult Adult Adult Aged Aged Aged Aged Aged Aged Aged Central America Central America Central America Central America Central America Central America Central America Female Female Female Female Female Female Female Genetic Testing methods Genetic Testing methods Genetic Testing methods Genetic Testing methods Genetic Testing methods Genetic Testing methods Genetic Testing methods Humans Humans Humans Humans Humans Humans Humans Male Male Male Male Male Male Male Middle Aged Middle Aged Middle Aged Middle Aged Middle Aged Middle Aged Middle Aged Parkinson Disease genetics Parkinson Disease genetics Parkinson Disease genetics Parkinson Disease genetics Parkinson Disease genetics Parkinson Disease genetics Parkinson Disease genetics South America South America South America South America South America South America South America Genetic Predisposition to Disease genetics Genetic Predisposition to Disease genetics Genetic Predisposition to Disease genetics Genetic Predisposition to Disease genetics Genetic Predisposition to Disease genetics Genetic Predisposition to Disease genetics 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 |
| topic_facet | Degenerative disease Disease Medicine Parkinson's disease Central nervous system disease Pediatrics Pathology Internal medicine Degenerative disease Disease Medicine Parkinson's disease Central nervous system disease Pediatrics Pathology Internal medicine Adult Adult Adult Adult Adult Adult Adult Aged Aged Aged Aged Aged Aged Aged Central America Central America Central America Central America Central America Central America Central America Female Female Female Female Female Female Female Genetic Testing methods Genetic Testing methods Genetic Testing methods Genetic Testing methods Genetic Testing methods Genetic Testing methods Genetic Testing methods Humans Humans Humans Humans Humans Humans Humans Male Male Male Male Male Male Male Middle Aged Middle Aged Middle Aged Middle Aged Middle Aged Middle Aged Middle Aged Parkinson Disease genetics Parkinson Disease genetics Parkinson Disease genetics Parkinson Disease genetics Parkinson Disease genetics Parkinson Disease genetics Parkinson Disease genetics South America South America South America South America South America South America South America Genetic Predisposition to Disease genetics Genetic Predisposition to Disease genetics Genetic Predisposition to Disease genetics Genetic Predisposition to Disease genetics Genetic Predisposition to Disease genetics Genetic Predisposition to Disease genetics 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 |
| url | https://pubmed.ncbi.nlm.nih.gov/39051491 https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mds.29931 https://doi.org/10.1002/mds.29931 https://hdl.handle.net/20.500.15037/1359 |
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