Mitochondrial disorders in the Arab Middle East population: the impact of next generation sequencing on the genetic diagnosis.

Ahmad Alahmad; Hebatallah Muhammad; Angela Pyle; Buthaina Albash; Robert McFarland; Robert W Taylor

doi:10.24911/JBCGenetics/183-1548325196

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Online Publishing Date:
01 / 01 / 2019

JBCGenetics. 2019; 2(1): 54-64

doi: 10.24911/JBCGenetics/183-1548325196

Mitochondrial disorders in the Arab Middle East population: the impact of next generation sequencing on the genetic diagnosis.

Ahmad Alahmad, Hebatallah Muhammad, Angela Pyle, Buthaina Albash, Robert McFarland, Robert W Taylor.

Cited By: 1

Abstract
Mitochondrial disorders are genetic conditions those faces great challenge in the accurate diagnoses due to extensive clinical heterogeneity associated with it. Mitochondria are the only cellular organelles containing their own genome and their functions are governed by both the nuclear and maternally inherited mitochondrial genomes, thus mitochondrial disease could follow all possible modes of inheritance adding to the complexity of diagnosis. Even though the prevalence of the mitochondrial disease has been studied in various parts of the world, the data regarding their prevalence in the Middle East population remains very limited. However, novel mitochondrial disease genes have been identified within the highly consanguineous Arab Middle East population, with the help of novel genetic technologies including the high throughput next-generation sequencing, leading to the identification of important founder mutations underlying several mitochondrial disorders. Furthermore, novel variants in mitochondrial disease genes help in expanding the spectrum of clinical phenotypes studied. The enrichment of reported phenotypes could enhance targeted gene panels leading to a rapid and precise genetic diagnosis facilitating genetic counseling. The aim of this review is to highlight the impact of next-generation sequencing on mitochondrial disease diagnosis in the Middle East population, particularly in identifying novel candidate genes and founder mutations.

Key words: Mitochondrial disease, Arab, Middle East, consanguineous populations, next generation sequencing, whole exome sequencing

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Pubmed Style

Alahmad A, Muhammad H, Pyle A, Albash B, McFarland R, Taylor RW. Mitochondrial disorders in the Arab Middle East population: the impact of next generation sequencing on the genetic diagnosis.. JBCGenetics. 2019; 2(1): 54-64. doi:10.24911/JBCGenetics/183-1548325196

Web Style

Alahmad A, Muhammad H, Pyle A, Albash B, McFarland R, Taylor RW. Mitochondrial disorders in the Arab Middle East population: the impact of next generation sequencing on the genetic diagnosis.. https://www.jbcgenetics.com/?mno=27765 [Access: March 14, 2024]. doi:10.24911/JBCGenetics/183-1548325196

AMA (American Medical Association) Style

Alahmad A, Muhammad H, Pyle A, Albash B, McFarland R, Taylor RW. Mitochondrial disorders in the Arab Middle East population: the impact of next generation sequencing on the genetic diagnosis.. JBCGenetics. 2019; 2(1): 54-64. doi:10.24911/JBCGenetics/183-1548325196

Vancouver/ICMJE Style

Alahmad A, Muhammad H, Pyle A, Albash B, McFarland R, Taylor RW. Mitochondrial disorders in the Arab Middle East population: the impact of next generation sequencing on the genetic diagnosis.. JBCGenetics. (2019), [cited March 14, 2024]; 2(1): 54-64. doi:10.24911/JBCGenetics/183-1548325196

Harvard Style

Alahmad, A., Muhammad, . H., Pyle, . A., Albash, . B., McFarland, . R. & Taylor, . R. W. (2019) Mitochondrial disorders in the Arab Middle East population: the impact of next generation sequencing on the genetic diagnosis.. JBCGenetics, 2 (1), 54-64. doi:10.24911/JBCGenetics/183-1548325196

Turabian Style

Alahmad, Ahmad, Hebatallah Muhammad, Angela Pyle, Buthaina Albash, Robert McFarland, and Robert W Taylor. 2019. Mitochondrial disorders in the Arab Middle East population: the impact of next generation sequencing on the genetic diagnosis.. Journal of Biochemical and Clinical Genetics, 2 (1), 54-64. doi:10.24911/JBCGenetics/183-1548325196

Chicago Style

Alahmad, Ahmad, Hebatallah Muhammad, Angela Pyle, Buthaina Albash, Robert McFarland, and Robert W Taylor. "Mitochondrial disorders in the Arab Middle East population: the impact of next generation sequencing on the genetic diagnosis.." Journal of Biochemical and Clinical Genetics 2 (2019), 54-64. doi:10.24911/JBCGenetics/183-1548325196

MLA (The Modern Language Association) Style

Alahmad, Ahmad, Hebatallah Muhammad, Angela Pyle, Buthaina Albash, Robert McFarland, and Robert W Taylor. "Mitochondrial disorders in the Arab Middle East population: the impact of next generation sequencing on the genetic diagnosis.." Journal of Biochemical and Clinical Genetics 2.1 (2019), 54-64. Print. doi:10.24911/JBCGenetics/183-1548325196

APA (American Psychological Association) Style

Alahmad, A., Muhammad, . H., Pyle, . A., Albash, . B., McFarland, . R. & Taylor, . R. W. (2019) Mitochondrial disorders in the Arab Middle East population: the impact of next generation sequencing on the genetic diagnosis.. Journal of Biochemical and Clinical Genetics, 2 (1), 54-64. doi:10.24911/JBCGenetics/183-1548325196

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