Leveraging genetic diversity to understand monogenic Parkinson’s disease’s landscape in AfrAbia

Mohamed, Wael Mohamed Yousef (2023) Leveraging genetic diversity to understand monogenic Parkinson’s disease’s landscape in AfrAbia. American Journal of Neurodegenerative Disease, 12 (4). pp. 108-122. ISSN 2165-591X

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Abstract

Parkinson’s disease may be caused by a single highly deleterious and penetrant pathogenic variant in 5-10% of cases (monogenic). Research into these mutational disorders yields important pathophysiological insights. This article examines the phenotype, genotype, pathophysiology, and geographic and ethnic distribution of genetic forms of disease. Well established Parkinson’s disease (PD) causal variants can follow an autosomal dominant (SNCA, LRRK2, and VPS35) and autosomal recessive pattern of inheritance (PRKN, PINK1, and DJ). Parkinson’s disease is a worldwide condition, yet the AfrAbia population is understudied in this regard. No prevalence or incidence investigations have been conducted yet. Few studies on genetic risk factors for PD in AfrAbia communities have been reported which supported the notion that the prevalence and incidence rates of PD in AfrAbia are generally lower than those reported for European and North American populations. There have been only a handful of documented genetic studies of PD in AfrAbia and very limited cohort and case-control research studies on PD have been documented. In this article, we provide a summary of prior conducted research on monogenic PD in Africa and highlight data gaps and promising new research directions. We emphasize that monogenic Parkinson’s disease is influenced by distinctions in ethnicity and geography, thereby reinforcing the need for global initiatives to aggregate large numbers of patients and identify novel candidate genes. The current article increases our knowledge of the genetics of Parkinson’s disease (PD) and helps to further our knowledge on the genetic factors that contribute to PD, such as the lower penetrance and varying clinical expressivity of known genetic variants, particularly in AfrAbian PD patients.

Item Type:	Article (Review)
Additional Information:	7497/107048
Uncontrolled Keywords:	AfrAbia, Parkinson's disease, monogenic, genetics, challenges, gaps, prospects
Subjects:	R Medicine > R Medicine (General)
Kulliyyahs/Centres/Divisions/Institutes (Can select more than one option. Press CONTROL button):	Kulliyyah of Medicine Kulliyyah of Medicine > Department of Basic Medical
Depositing User:	Dr Wael Mohamed
Date Deposited:	25 Sep 2023 14:30
Last Modified:	25 Sep 2023 14:30
URI:	http://irep.iium.edu.my/id/eprint/107048

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