Genetic screening of Filipinos suspected with familial Parkinson's disease: A pilot study.

Autor: Caritativo ECA; Institute for Neurosciences, St. Luke's Medical Center, Quezon City, Global City, Philippines., Yu JRT; Institute for Neurosciences, St. Luke's Medical Center, Quezon City, Global City, Philippines; Cleveland Clinic Center for Neurological Restoration, Neurological Institute, OH, USA., Bautista JMP; Movement Disorders Service and Section of Neurology, Institute for Neurosciences, St. Luke's Medical Center, Quezon City, Global City, Philippines. Electronic address: jmpbautista@stlukes.com.ph., Nishioka K; Juntendo University School of Medicine, Department of Neurology, Tokyo, Japan., Jamora RDG; Movement Disorders Service and Section of Neurology, Institute for Neurosciences, St. Luke's Medical Center, Quezon City, Global City, Philippines; Department of Neurosciences, College of Medicine - Philippine General Hospital, University of the Philippines Manila, Manila, Philippines., Yalung PM; Institute for Neurosciences, St. Luke's Medical Center, Quezon City, Global City, Philippines., Ng AR; Movement Disorders Service and Section of Neurology, Institute for Neurosciences, St. Luke's Medical Center, Quezon City, Global City, Philippines., Hattori N; Juntendo University School of Medicine, Department of Neurology, Tokyo, Japan.
Jazyk: angličtina
Zdroj: Parkinsonism & related disorders [Parkinsonism Relat Disord] 2023 Mar; Vol. 108, pp. 105319. Date of Electronic Publication: 2023 Feb 07.
DOI: 10.1016/j.parkreldis.2023.105319
Abstrakt: Introduction: Although genetic factors are known to play a role in the pathogenesis of Parkinson's disease (PD), true prevalence of familial PD is unknown. We conducted this pilot study to identify genes implicated in familial Parkinson's disease among Filipinos.
Methods: Eighteen Filipino patients belonging to 11 families with personal and family history of PD underwent thorough evaluation by movement disorders specialists. Samples were analyzed in Juntendo University, Tokyo, Japan. Sanger sequencing of polymerase chain reaction products was performed. Each sample was screened for 23 genes (SNCA, PARK 2, UCHL1, PINK 1, DJ-1, LRRK2, ATP13A2, GIGYF2, HTRA2, PLA266, FBX07, VPS35, EIF461, DNAJC13, CHCHD2, GCH1, MAPT, NR4A2, VPS13c, PSEN1, and GRN).
Results: Out of 18 patients, six harbored Parkinson-related gene mutations. Five individuals from three families were positive for PINK1 c.10140T > C(p.L347P) mutation while one had heterozygous variant PRKN c.136G>T(p.A465) gene mutation. Three families displayed autosomal recessive pattern while one family with PINK1 mutation showed autosomal dominant mode of inheritance. Bradykinesia and tremor were predominant symptoms. Mean age at onset of symptoms was 40.4 years among those with PINK1 mutations.
Conclusion: In this study, we presented the clinical profiles and identified two genetic mutations among a small group of Filipino patients with familial PD. They were congruent with most studies showing these mutations as the most common causes of autosomal recessive early-onset PD. Preliminary data from this pilot study will guide planning for larger scale studies, such as collaborative projects including The Global Parkinson's Genetics Program (GP2).
Competing Interests: Declaration of competing interest All authors have no conflicts of interest to declare.
(Copyright © 2023 Elsevier Ltd. All rights reserved.)
Databáze: MEDLINE
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