Case Report
Volume: 1 | Issue: 2 | Published: Jun 28, 2018 | Pages: 98 - 101 | DOI: 10.24911/JBCGenetics/183-1530603908
ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy
Authors: Sadia Tabassum , Ali Dhohyan Al Otaibi , Rowim Fahad Al Mutairi , Mohammed Al Mannai
Article Info
Authors
Sadia Tabassum
NNI, King Fahad Medical City, Riyadh
Ali Dhohyan Al Otaibi
NNI, King Fahad Medical City, Riyadh
Rowim Fahad Al Mutairi
NNI, King Fahad Medical City, Riyadh
Mohammed Al Mannai
Children Hospital, King Fahad Medical City, Riyadh
Publication History
Received: July 03, 2018
Revised: August 27, 2018
Accepted: August 28, 2018
Published: June 28, 2018
Abstract
Introduction: Iron-Sulfur Cluster (ISC) biogenesis is a vital cellular process in the mitochondria. It is required to produce various ISC-containing proteins which are present in the nucleus, mitochondria, and cytosol. ISC proteins are responsible for essential functions such as glycine cleavage and the formation of lipoic acid. ISCA2 encodes an A-type ISC protein involved in the assembly of mitochondrial iron-sulfur cluster (4Fe- 4S) which is important for electron transfer and mitochondrial function. ISCA2 related Mitochondrial Disorder (IRMD) is a severe disorder of systemic energy metabolism, characterized by weakness, respiratory failure, lack of neurological development, lactic acidosis, hyperglycinemia and early death. ISCA2 gene is located on Chromosome 14q24.3 and has autosomal recessive inheritance. Objective: In this report, we present the clinical and radiological features a subject homozygous for the common founder pathogenic variant; c.229G>A; p.Gly77Ser. Conclusion: IRMD presents with infantile onset triad of progressive neurodevelopmental regression, nystagmus and optic atrophy. It is a rapidly progressive condition with death usually in first two years of life. It should be considered in infantile onset leukodystrophy. Future studies are needed to understand the role of ISCA2 gene, the effect of its mutation, and any targets for future treatment strategies.
Keywords: Neurodegenerative, Infantile leukodystrophy, Mitochondrial disorder, respiratory chain
Pubmed Style
Sadia Tabassum, Ali Dhohyan Al Otaibi, Rowim Fahad Al Mutairi, Mohammed Al Mannai. ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy. JBC Genetics. 2018; 28 (June 2018): 98-101. doi:10.24911/JBCGenetics/183-1530603908
Web Style
Sadia Tabassum, Ali Dhohyan Al Otaibi, Rowim Fahad Al Mutairi, Mohammed Al Mannai. ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy. https://www.jbcgenetics.com/index.php/articles/2120 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1530603908
AMA (American Medical Association) Style
Sadia Tabassum, Ali Dhohyan Al Otaibi, Rowim Fahad Al Mutairi, Mohammed Al Mannai. ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy. JBC Genetics. 2018; 28 (June 2018): 98-101. doi:10.24911/JBCGenetics/183-1530603908
Vancouver/ICMJE Style
Sadia Tabassum, Ali Dhohyan Al Otaibi, Rowim Fahad Al Mutairi, Mohammed Al Mannai. ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy. JBC Genetics. (2018), [cited April 27, 2025]; 28 (June 2018): 98-101. doi:10.24911/JBCGenetics/183-1530603908
Harvard Style
Sadia Tabassum, Ali Dhohyan Al Otaibi, Rowim Fahad Al Mutairi, Mohammed Al Mannai (2018) ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy. JBC Genetics, 28 (June 2018): 98-101. doi:10.24911/JBCGenetics/183-1530603908
Chicago Style
Sadia Tabassum, Ali Dhohyan Al Otaibi, Rowim Fahad Al Mutairi, Mohammed Al Mannai. "ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy." 28 (2018), 98-101. doi:10.24911/JBCGenetics/183-1530603908
MLA (The Modern Language Association) Style
Sadia Tabassum, Ali Dhohyan Al Otaibi, Rowim Fahad Al Mutairi, Mohammed Al Mannai. "ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy." 28.June 2018 (2018), 98-101. Print. doi:10.24911/JBCGenetics/183-1530603908
APA (American Psychological Association) Style
Sadia Tabassum, Ali Dhohyan Al Otaibi, Rowim Fahad Al Mutairi, Mohammed Al Mannai (2018) ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy. , 28 (June 2018), 98-101. doi:10.24911/JBCGenetics/183-1530603908