Review Article
Volume: 2 | Issue: 1 | Published: Jan 01, 2019 | Pages: 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.
Authors:
Ahmad Alahmad
, Hebatallah Muhammad
, Angela Pyle
, Buthaina Albash
, Robert McFarland
, Robert W Taylor
Article Info
Authors
Ahmad Alahmad
Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, United Kingdom
Hebatallah Muhammad
Kuwait Medical Genetics Centre, Al-Sabah Medical Area, Kuwait
Buthaina Albash
Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, United Kingdom
Robert W Taylor
Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, United Kingdom
Publication History
Received: October 24, 2018
Revised: February 18, 2019
Accepted: March 11, 2019
Published: January 01, 2019
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.
Keywords: Mitochondrial disease, Arab, Middle East, consanguineous populations, next generation sequencing, whole exome sequencing
Pubmed Style
Ahmad Alahmad, Hebatallah Muhammad, Angela Pyle, Buthaina Albash, Robert McFarland, Robert W Taylor. Mitochondrial disorders in the Arab Middle East population: the impact of next generation sequencing on the genetic diagnosis.. JBC Genetics. 2019; 01 (January 2019): 54-64. doi:10.24911/JBCGenetics/183-1548325196
Web Style
Ahmad Alahmad, Hebatallah Muhammad, Angela Pyle, Buthaina Albash, Robert McFarland, Robert W Taylor. Mitochondrial disorders in the Arab Middle East population: the impact of next generation sequencing on the genetic diagnosis.. https://www.jbcgenetics.com/index.php/articles/2170 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1548325196
AMA (American Medical Association) Style
Ahmad Alahmad, Hebatallah Muhammad, Angela Pyle, Buthaina Albash, Robert McFarland, Robert W Taylor. Mitochondrial disorders in the Arab Middle East population: the impact of next generation sequencing on the genetic diagnosis.. JBC Genetics. 2019; 01 (January 2019): 54-64. doi:10.24911/JBCGenetics/183-1548325196
Vancouver/ICMJE Style
Ahmad Alahmad, Hebatallah Muhammad, Angela Pyle, Buthaina Albash, Robert McFarland, Robert W Taylor. Mitochondrial disorders in the Arab Middle East population: the impact of next generation sequencing on the genetic diagnosis.. JBC Genetics. (2019), [cited April 27, 2025]; 01 (January 2019): 54-64. doi:10.24911/JBCGenetics/183-1548325196
Harvard Style
Ahmad Alahmad, Hebatallah Muhammad, Angela Pyle, Buthaina Albash, Robert McFarland, Robert W Taylor (2019) Mitochondrial disorders in the Arab Middle East population: the impact of next generation sequencing on the genetic diagnosis.. JBC Genetics, 01 (January 2019): 54-64. doi:10.24911/JBCGenetics/183-1548325196
Chicago Style
Ahmad Alahmad, Hebatallah Muhammad, Angela Pyle, Buthaina Albash, Robert McFarland, Robert W Taylor. "Mitochondrial disorders in the Arab Middle East population: the impact of next generation sequencing on the genetic diagnosis.." 01 (2019), 54-64. doi:10.24911/JBCGenetics/183-1548325196
MLA (The Modern Language Association) Style
Ahmad Alahmad, Hebatallah Muhammad, Angela Pyle, Buthaina Albash, Robert McFarland, Robert W Taylor. "Mitochondrial disorders in the Arab Middle East population: the impact of next generation sequencing on the genetic diagnosis.." 01.January 2019 (2019), 54-64. Print. doi:10.24911/JBCGenetics/183-1548325196
APA (American Psychological Association) Style
Ahmad Alahmad, Hebatallah Muhammad, Angela Pyle, Buthaina Albash, Robert McFarland, Robert W Taylor (2019) Mitochondrial disorders in the Arab Middle East population: the impact of next generation sequencing on the genetic diagnosis.. , 01 (January 2019), 54-64. doi:10.24911/JBCGenetics/183-1548325196