Evidence map›Paper›PMID 40108729›Full record

ArticleDiabetology & metabolic syndrome2025

Identification of variants in exon 4 of the LDLR gene and assessment of their effects on the produced proteins in saudi women with metabolic syndrome.

Hiba S Al-Amodi, Nazik Altayeb Abdelbasit, Sameer H Fatani, Mohiuddin M Taher, Maowia Mohamed Mukhtar, Ayman S Mohamed, Abdallah M Gameel, Hala F M Kamel, Shimaa Abdelsattar

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Article in Diabetology & metabolic syndrome, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Hiba S Al-AmodiDepartment of Biochemistry, Faculty of Medicine, Umm ALQura University, 21955, Makka, Saudi Arabia.
Nazik Altayeb AbdelbasitDepartment of Medical Biochemistry, Faculty of Medicine, National University Khartoum, Khartoum, 11115, Sudan.
Sameer H FataniDepartment of Biochemistry, Faculty of Medicine, Umm ALQura University, 21955, Makka, Saudi Arabia.
Mohiuddin M TaherScience and Technology Unit and the Department of Medical Genetics, Umm Al-Qura University, 21955, Makkah, Saudi Arabia.
Maowia Mohamed MukhtarInstitute of Endemic Diseases, University of Khartoum, Medical Campus, Khartoum, Khartoum, 11115, Sudan.
Ayman S MohamedMolecular Biologist, Children Cancer Hospital Egypt, Cairo, 57357, Egypt.
Abdallah M GameelClinical Pathology Department, National Cancer Institute, Cairo University, Cairo, 11796, Egypt.
Hala F M KamelDepartment of Biochemistry, Faculty of Medicine, Umm ALQura University, 21955, Makka, Saudi Arabia.
Shimaa AbdelsattarClinical Biochemistry and Molecular Diagnostics Department, National Liver Institute, Menoufia University, Menoufia, Egypt. Shimaa.abdelsattar@liver.menofia.edu.eg.

Funding

This study was supported by a grant from The Deanship of Scientific Research (DSR) Umm-Al-Qura University, Makkah to Dr. Sameer H. Fatani . (Code number- 4340109635)
6 · The paper itself

Abstract

backgroundGenetic factors might influence metabolic syndrome (MetS) or any of its components. It was postulated that low density lipoprotein receptor (LDLR) gene variants could play a role in cholesterol hemostasis and the development of MetS. However, the causal-effect relationship between such variants and the development of MetS is not clearly identified or even studied before in Saudi Arabian women. This study aims to identify the variants of LDLR exon-4 in Saudi Arabian women with MetS in comparison to healthy women and to assess the expected effect of amino acids alterations on the structure and functions of the LDLR proteins. A total of 208 female Saudi patients with MetS and 104 controls were included in the study. The exon 4 of LDLR gene was studied by DNA sequencing (Sanger) and structural analysis was performed using Project HOPE software.

resultsFour variants were identified; 2 were missense variants (2.4%; 5/208): (p.D172N and p.D178N) and 2 were nonsense variants (stop gained) (1.44%; 3/208): (p.E140* and p.L135*). Structural analysis of the expected effects of such variants revealed that they might disrupt their interactions with other proteins or biomolecules, additionally, the nonsense variants via expressing a stop codon, these will produce a truncated protein resulting in a defective function of LDL receptor.

conclusionsFour variants in the LDLR gene, exon 4 (2 missense and 2 nonsense variants) have been identified and their expected structural effects were assessed in Saudi Arabian women with MetS in Makkah region.

Indexed as

DNA sequencingLDLR gene exon 4LDLR proteinsMetabolic syndromeSaudi women

Identifiers

PMID40108729
PMCPMC11921633

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