Molecular Characterization of Aldehyde Dehydrogenase in Patients with Inborn Error of Metabolism | [Abstract Book on International Conference on Life Sciences (ICLS-23) 11-12 May 22-23 • 2023]

Author(s):

1. Samia Sattar: Gomal Centre of Biochemistry and Biotechnology, Gomal University, D.I.Khan, 29050,Khyber Pakhtunkhwa, Pakistan

2. Aiman Saeed: Gomal Centre of Biochemistry and Biotechnology, Gomal University, D.I.Khan, 29050,Khyber Pakhtunkhwa, Pakistan

3. Muhammad Zubair: Gomal Centre of Biochemistry and Biotechnology, Gomal University, D.I.Khan, 29050,Khyber Pakhtunkhwa, Pakistan

4. Christian Windpassinger: Diagnostic and Research Institute of Human Genetics, Medical University of Graz, Graz, Austria

5. Shakil Abbas: Gomal Centre of Biochemistry and Biotechnology, Gomal University, D.I.Khan, 29050,Khyber Pakhtunkhwa, Pakistan

6. Rubina Naz: Institute of Chemical Sciences, Gomal University, D.I.Khan, 29050, Khyber Pakhtunkhwa, Pakistan

7. Muzammil Ahmad Khan: Gomal Centre of Biochemistry and Biotechnology, Gomal University,D.I.Khan, 29050, Khyber Pakhtunkhwa, Pakistan

Abstract:

Inborn error of metabolism (IEM) is a single gene disorder that results from defects in the biochemical pathways. Mutations in metabolic genes lead to absence or abnormal enzyme function or cofactor, which causes either accumulation or deficiency of specific metabolites. Most of these metabolites are neurotoxic and may cause death in early neonatal period or severe neurological disability. Herein the current study, a consanguineous Pakistani family of Sjögren-Larsson syndrome was recruited from District Mianwali. The family underwent genetic analysis, enzyme characterization assay and in silico functional analysis. Exome analysis in this family revealed a missense mutation c.682C>T [p.Arg228Cys] in ALDH3A2.ALDH3A2 encodes Aldehyde dehydrogenase (ALDH, EC 1.2.1.3) enzyme which catalyzes oxidation of various aldehydes. Deficiency in this enzyme causes Sjögren-Larsson syndrome, a rare inherited disorder that is characterized by ichthyosis, spasticity, and intellectual disability. Protein structural modelling and docking demonstrate significant changes in the structural and interaction properties. Blood plasma was utilized for the characterization of ALDH, by using DEAE column chromatography (Sephadex A-25) and Gel filtration technique estimated the molecular weight of enzyme to be 54kDa. Furthermore, enzyme assay determines significant enzyme deficiency in the affected individuals. The present genetic study would assist in genetic counselling of normal family members.

Page(s): 33-33

DOI: DOI not available

Published: Journal: Abstract Book on International Conference on Life Sciences (ICLS-23) 11-12 May 22-23, Volume: 0, Issue: 0, Year: 2023

Keywords:

Missense mutation , Exome sequencing , SjögrenLarsson syndrome , ALDH3A2 , Inborn error of metabolism

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