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Review

Use of Next-Generation Sequencing for Identifying Mitochondrial Disorders

by
Shafi Mahmud
1,*,†,
Suvro Biswas
1,†,
Shamima Afrose
1,†,
Mohasana Akter Mita
1,†,
Md. Robiul Hasan
1,†,
Mst. Sharmin Sultana Shimu
1,
Gobindo Kumar Paul
1,
Sanghyun Chung
2,
Md. Abu Saleh
1,
Sultan Alshehri
3,
Momammed M. Ghoneim
4,
Maha Alruwaily
4 and
Bonglee Kim
2,*
1
Department of Genetic Engineering and Biotechnology, University of Rajshahi, Rajshahi 6205, Bangladesh
2
Department of Pathology, College of Korean Medicine, Kyung Hee University, Seoul 02447, Korea
3
Department of Pharmaceutics, College of Pharmacy, King Saud University, Riyadh 11451, Saudi Arabia
4
Department of Pharmacy Practice, College of Pharmacy, AlMaarefa University, Ad Diriyah 13713, Saudi Arabia
*
Authors to whom correspondence should be addressed.
†
These authors contributed equally to this work.
Curr. Issues Mol. Biol. 2022, 44(3), 1127-1148; https://doi.org/10.3390/cimb44030074
Submission received: 12 January 2022 / Revised: 18 February 2022 / Accepted: 24 February 2022 / Published: 27 February 2022
(This article belongs to the Special Issue Mitochondrial Genome 2024)
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Abstract

Mitochondria are major contributors to ATP synthesis, generating more than 90% of the total cellular energy production through oxidative phosphorylation (OXPHOS): metabolite oxidation, such as the β-oxidation of fatty acids, and the Krebs’s cycle. OXPHOS inadequacy due to large genetic lesions in mitochondrial as well as nuclear genes and homo- or heteroplasmic point mutations in mitochondrially encoded genes is a characteristic of heterogeneous, maternally inherited genetic disorders known as mitochondrial disorders that affect multisystemic tissues and organs with high energy requirements, resulting in various signs and symptoms. Several traditional diagnostic approaches, including magnetic resonance imaging of the brain, cardiac testing, biochemical screening, variable heteroplasmy genetic testing, identifying clinical features, and skeletal muscle biopsies, are associated with increased risks, high costs, a high degree of false-positive or false-negative results, or a lack of precision, which limits their diagnostic abilities for mitochondrial disorders. Variable heteroplasmy levels, mtDNA depletion, and the identification of pathogenic variants can be detected through genetic sequencing, including the gold standard Sanger sequencing. However, sequencing can be time consuming, and Sanger sequencing can result in the missed recognition of larger structural variations such as CNVs or copy-number variations. Although each sequencing method has its own limitations, genetic sequencing can be an alternative to traditional diagnostic methods. The ever-growing roster of possible mutations has led to the development of next-generation sequencing (NGS). The enhancement of NGS methods can offer a precise diagnosis of the mitochondrial disorder within a short period at a reasonable expense for both research and clinical applications.
Keywords: mitochondrial disorder; OXPHOS; mtDNA; nDNA; NGS mitochondrial disorder; OXPHOS; mtDNA; nDNA; NGS

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MDPI and ACS Style

Mahmud, S.; Biswas, S.; Afrose, S.; Mita, M.A.; Hasan, M.R.; Shimu, M.S.S.; Paul, G.K.; Chung, S.; Saleh, M.A.; Alshehri, S.; et al. Use of Next-Generation Sequencing for Identifying Mitochondrial Disorders. Curr. Issues Mol. Biol. 2022, 44, 1127-1148. https://doi.org/10.3390/cimb44030074

AMA Style

Mahmud S, Biswas S, Afrose S, Mita MA, Hasan MR, Shimu MSS, Paul GK, Chung S, Saleh MA, Alshehri S, et al. Use of Next-Generation Sequencing for Identifying Mitochondrial Disorders. Current Issues in Molecular Biology. 2022; 44(3):1127-1148. https://doi.org/10.3390/cimb44030074

Chicago/Turabian Style

Mahmud, Shafi, Suvro Biswas, Shamima Afrose, Mohasana Akter Mita, Md. Robiul Hasan, Mst. Sharmin Sultana Shimu, Gobindo Kumar Paul, Sanghyun Chung, Md. Abu Saleh, Sultan Alshehri, and et al. 2022. "Use of Next-Generation Sequencing for Identifying Mitochondrial Disorders" Current Issues in Molecular Biology 44, no. 3: 1127-1148. https://doi.org/10.3390/cimb44030074

APA Style

Mahmud, S., Biswas, S., Afrose, S., Mita, M. A., Hasan, M. R., Shimu, M. S. S., Paul, G. K., Chung, S., Saleh, M. A., Alshehri, S., Ghoneim, M. M., Alruwaily, M., & Kim, B. (2022). Use of Next-Generation Sequencing for Identifying Mitochondrial Disorders. Current Issues in Molecular Biology, 44(3), 1127-1148. https://doi.org/10.3390/cimb44030074

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