Next‑generation sequencing of the whole mitochondrial genome identifies novel and common variants in patients with psoriasis, type 2 diabetes mellitus and psoriasis with comorbid type 2 diabetes mellitus

Alwehaidah,Materah Salem; Al‑Kafaji,Ghada; Bakhiet,Moiz; Alfadhli,Suad

doi:10.3892/br.2021.1417

Next‑generation sequencing of the whole mitochondrial genome identifies novel and common variants in patients with psoriasis, type 2 diabetes mellitus and psoriasis with comorbid type 2 diabetes mellitus

Authors:
- Materah Salem Alwehaidah
- Ghada Al‑Kafaji
- Moiz Bakhiet
- Suad Alfadhli
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Affiliations: Department of Medical Laboratory, Faculty of Allied Health, Kuwait University, Sulaibekhat 90805, State of Kuwait, Department of Molecular Medicine, College of Medical and Medical Sciences, Arabian Gulf University, Manama 26671, Kingdom of Bahrain
Published online on: March 3, 2021 https://doi.org/10.3892/br.2021.1417
Article Number: 41
Copyright: © Alwehaidah et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Recent studies have shown the role of mitochondrial DNA (mtDNA) variants in the pathogenesis of both psoriasis (Ps) and type 2 diabetes (T2D) amongst different ethnicities. However, no studies have investigated the mtDNA variants present in patients with Ps, T2D, and both Ps and T2D (Ps‑T2D) in the Arab population. The entire mitochondrial genomes of Kuwaiti subjects with Ps, T2D, Ps‑T2D and healthy controls were sequenced using Ion Torrent next‑generation sequencing. A total of 36 novel mutations and 51 previously reported mutations were identified in the patient groups that were absent in the controls. Amongst the novel mutations, eight were non‑synonymous and exhibited amino acid changes. Of these, two missense mutations (G5262A and A12397G) in the ND genes were detected in the Ps group and a C15735T missense mutation in the CYB gene was detected in Ps‑T2D. Other known sequence variations were seen more frequently in all or certain patient groups compared with the controls (P<0.05). Additionally, the A8701G missense mutation in the ATPase 6 gene missense mutation was also observed in a higher frequency in the Ps group compared with the control. The present study is the first to perform a complete mitochondrial genome sequence analysis of Kuwaiti subjects with Ps, T2D and Ps‑T2D, and both novel and known mtDNA variants were discovered. The patient‑specific novel non‑synonymous mutations may be co‑responsible in the determination of these diseases. The higher frequency of certain mtDNA variants in the patients compared with the controls may suggest a role in predisposing patients to these diseases. Further functional analyses are required to reveal the role of the identified mutations in these disease conditions.

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