Current understanding on the genetic basis of key metabolic disorders: A review

Kenneth Francis Rodrigues and Yong, Wilson Thau Lym and Md. Safiul Alam Bhuiyan and Md. Shafiquzzaman Siddiquee and Muhammad Dawood Shah and Balu Alagar Venmathi Maran (2022) Current understanding on the genetic basis of key metabolic disorders: A review. Biology, 11 (1308). pp. 1-19. ISSN 2079-7737

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URL: https://www.mdpi.com/2079-7737/11/9/1308/htm

Abstract

Advances in data acquisition via high resolution genomic, transcriptomic, proteomic and metabolomic platforms have driven the discovery of the underlying factors associated with metabolic disorders (MD) and led to interventions that target the underlying genetic causes as well as lifestyle changes and dietary regulation. The review focuses on fourteen of the most widely studied inherited MD, which are familial hypercholesterolemia, Gaucher disease, Hunter syndrome, Krabbe disease, Maple syrup urine disease, Metachromatic leukodystrophy, Mitochondrial encephalopathy lactic acidosis stroke-like episodes (MELAS), Niemann-Pick disease, Phenylketonuria (PKU), Porphyria, Tay-Sachs disease, Wilson’s disease, Familial hypertriglyceridemia (F-HTG) and Galactosemia based on genome wide association studies, epigenetic factors, transcript regulation, post-translational genetic modifications and biomarker discovery through metabolomic studies. We will delve into the current approaches being undertaken to analyze metadata using bioinformatic approaches and the emerging interventions using genome editing platforms as applied to animal models.

Item Type:	Article
Keyword:	Bioinformatics , Biomarkers , Epigenetics , Genetic modifications , Genome editing , Genome wide association studies
Subjects:	T Technology > TP Chemical technology > TP1-1185 Chemical technology > TP248.13-248.65 Biotechnology
Department:	INSTITUTE > Borneo Marine Research Institute
Depositing User:	SAFRUDIN BIN DARUN -
Date Deposited:	28 Oct 2022 15:05
Last Modified:	28 Oct 2022 15:05
URI:	https://eprints.ums.edu.my/id/eprint/34589

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