دورية أكاديمية
أعرض في EDS

Rare and novel variants of PRKN and PINK1 genes in Vietnamese patients with early-onset Parkinson's disease.

التفاصيل البيبلوغرافية
العنوان: Rare and novel variants of PRKN and PINK1 genes in Vietnamese patients with early-onset Parkinson's disease.
المؤلفون: Ton ND; Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam.; Graduate University of Science and Technology, Vietnam Academy of Science and Technology, Hanoi, Vietnam., Thuan ND; 103 Military Hospital, Vietnam Military Medical University, Hanoi, Vietnam., Thuong MTH; Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam., Ngoc TTB; Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam., Nhung VP; Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam., Hoa NTT; Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam., Nam NH; Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam., Dung HT; 103 Military Hospital, Vietnam Military Medical University, Hanoi, Vietnam., Son ND; 103 Military Hospital, Vietnam Military Medical University, Hanoi, Vietnam., Ba NV; Vietnam Military Medical University, Hanoi, Vietnam., Bac ND; Vietnam Military Medical University, Hanoi, Vietnam., Tai TN; University Medical Center HCMC, University of Medicine and Pharmacy at HCMC, Ho Chi Minh City, Vietnam., Dung LTK; Vietnam Military Medical University, Hanoi, Vietnam., Hung NT; National Geriatric Hospital, Hanoi, Vietnam., Duong NT; Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam.; Graduate University of Science and Technology, Vietnam Academy of Science and Technology, Hanoi, Vietnam., Ha NH; Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam.; Graduate University of Science and Technology, Vietnam Academy of Science and Technology, Hanoi, Vietnam., Hai NV; Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam.; Graduate University of Science and Technology, Vietnam Academy of Science and Technology, Hanoi, Vietnam.
المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Oct; Vol. 8 (10), pp. e1463. Date of Electronic Publication: 2020 Aug 27.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [Hoboken, NJ] : John Wiley & Sons, [2013]-
مواضيع طبية MeSH: Mutation*, Parkinson Disease/*genetics , Protein Kinases/*genetics , Ubiquitin-Protein Ligases/*genetics, Adult ; Age of Onset ; Female ; Gene Frequency ; Heterozygote ; Homozygote ; Humans ; Male ; Middle Aged ; Parkinson Disease/pathology ; Vietnam
مستخلص: Background: Early-onset Parkinson's disease (EOPD) refers to that of patients who have been diagnosed or had onset of motor symptoms before age 50, accounting for 4% of Parkinson's disease patients. The PRKN and PINK1 genes, both involved in a metabolic pathway, are associated with EOPD.
Methods: To identify variants associated with EOPD, coding region of PARKIN and PINK1 genes in 112 patients and 112 healthy individuals were sequenced. Multiplex ligation-dependent probe amplification kit was used to determine EOPD patients that carried mutations in PRKN and PINK1 genes.
Results and Conclusion: Three rare and three novel mutations in total of 14 variants of PARKIN and PINK1 were detected in the EOPD cohorts. Mutations of PRKN and PINK1 genes were found in five (4.4%) patients, which were four patients with compound heterozygous variants in the PRKN and one case with a homozygous mutation of the PINK1 gene. The novel mutations might reduce the stability of the PRKN and PINK1 protein molecules. The frequency of homozygous mutant genotype p.A340T of the PINK1 in the EOPD cohort was higher than in control (p = 0.0001, OR = 5.704), suggesting this variant might be a risk factor for EOPD. To the best of our knowledge, this is the first study of PRKN and PINK1 genes conducted on Vietnamese EOPD patients. These results might contribute to the genetic screening of EOPD in Vietnam.
(© 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)
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فهرسة مساهمة: Keywords: PARKIN; PINK1; Vietnamese; early-onset Parkinson's disease
المشرفين على المادة: EC 2.3.2.27 (Ubiquitin-Protein Ligases)
EC 2.3.2.27 (parkin protein)
EC 2.7.- (Protein Kinases)
EC 2.7.11.1 (PTEN-induced putative kinase)
تواريخ الأحداث: Date Created: 20200829 Date Completed: 20210531 Latest Revision: 20210531
رمز التحديث: 20240829
مُعرف محوري في PubMed: PMC7549612
DOI: 10.1002/mgg3.1463
PMID: 32856414
قاعدة البيانات: MEDLINE
الوصف
تدمد:2324-9269
DOI:10.1002/mgg3.1463