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Cited by 56Parkinson's Disease Mechanisms and TreatmentsNeurological disorders and treatmentsNuclear Receptors and Signaling

Analysis of LRRK2, SNCA, Parkin, PINK1, and DJ-1 in Zambian patients with Parkinson's disease

Yonova-Doing, Ekaterina, Atadzhanov, Masharip, Quadri, Marialuisa, Kelly, Paul, Shawa, Nyambura, Musonda, Sheila T.S., Simons, Erik J., Breedveld, Guido J. +2 more·2012·Parkinsonism & Related Disorders
DOI 10.1016/j.parkreldis.2012.02.018
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Abstract

Recent studies delineate substantial genetic components in Parkinson's disease (PD). However, very few studies were performed in Sub-Saharan African populations. Here, we explore the contribution of known PD-causing genes in patients of indigenous Zambian ancestry. We studied thirty-nine Zambian patients, thirty-eight with PD and one with parkinsonian-pyramidal syndrome (18% familial; average onset age 54.9 ± 12.2 years). In the whole group, all SNCA exons and LRRK2 exons 29 to 48 (encoding for important functional domains) were sequenced. In the familial patients and those with onset <55 years (n = 22) the whole LRRK2 coding region was sequenced (51 exons). In the patients with onset <50 years (n = 12), all parkin, PINK1, and DJ-1 exons were sequenced, and dosage analysis of parkin, PINK1, DJ-1, LRRK2, and SNCA was performed. Dosage analysis was also performed in the majority of the late-onset patients. The LRRK2 p.Gly2019Ser mutation was not detected. A novel LRRK2 missense variant (p.Ala1464Gly) of possible pathogenic role was found in one case. Two heterozygous, likely disease-causing deletions of parkin (exon 2 and exon 4) were detected in an early-onset case. Pathogenic mutations were not detected in SNCA, PINK1, or DJ-1. We also report variability at several single nucleotide polymorphisms in the above-mentioned genes. This is the first molecular genetic study in Zambian PD patients, and the first comprehensive analysis of the LRRK2 and SNCA genes in a Sub-Saharan population. Common disease-causing mutations were not detected, suggesting that further investigations in PD patients from these populations might unravel the role of additional, still unknown genes.

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  • Mitochondria are key targets for PINK1 functioning, an important regulator of mitochondrial respiration, phosphorylation of chaperons, and other functions.

    “Mitochondria are key targets for PINK1 functioning, an important regulator of mitochondrial respiration, phosphorylation of chaperons, and other functions (Yonova-Doing et al. 2012).”

    From Reactive Oxygen Species, Toxicity, Oxidative Stress, and Antioxidants: Chronic Diseases and Aging (2023) · cites this paper as Yonova-Doing et al. 2012

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Authors
Yonova-Doing, E., Atadzhanov, M., Quadri, M., Kelly, P., Shawa, N., Musonda, S. T. S., Simons, E. J., Breedveld, G. J., Oostra, B. A., & Bonifati, V.
Affiliations
  • University of Zambia (ZM)
  • Erasmus MC (NL)
Corresponding author
  • Atadzhanov, Masharip
  • Bonifati, Vincenzo
ORCID
Venue
Parkinsonism & Related Disorders
Publisher
Elsevier BV
Published
2012-06
Volume
18
Issue
5
Pages
567-571
ISSN
1353-8020 (ISSN-L)
DOI
10.1016/j.parkreldis.2012.02.018
OpenAlex
W2081602677
Cited by
56
References
20
Citations by year
2026: 5 · 2025: 6 · 2024: 3 · 2023: 11 · 2022: 4 · 2021: 4 · 2020: 4 · 2019: 1 · 2018: 2 · 2017: 3 · 2016: 4 · 2015: 2 · 2014: 5 · 2013: 2
FWCI
1.88
Type
journal article
Language
en
Open access
closed
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations
  • Parkinsonism & Related Disorders (publishedVersion)
  • PubMed (publishedVersion)
  • EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
Funders
  • Internationaal Parkinson Fonds
  • Netherlands Organization for Scientific Research
Topics
  • Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
  • Health Sciences › Medicine › Neurology › Neurological disorders and treatments
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Nuclear Receptors and Signaling
Keywords
Parkinson's disease, LRRK2
MeSH terms
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Protein Deglycase DJ-1, PTEN-Induced Putative Kinase, Adult, DNA Mutational Analysis, Family Health, Female, Humans, Male, Middle Aged, Mutation, Parkinson Disease, Protein Kinases, Zambia, Oncogene Proteins, Protein Serine-Threonine Kinases, Genetic Predisposition to Disease, Ubiquitin-Protein Ligases, Intracellular Signaling Peptides and Proteins, alpha-Synuclein

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