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Case Report
Online Published: 28 Jun 2018
 


ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy

Sadia Tabassum, Ali Dhohyan Al Otaibi, Rowim Fahad Al Mutairi, Mohammed Al Mannai.


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.

Key words: Neurodegenerative, Infantile leukodystrophy, Mitochondrial disorder, respiratory chain


 
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How to Cite this Article
Pubmed Style

Tabassum S, Otaibi ADA, Mutairi RFA, Mannai MA. ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy. JBCGenetics. 2018; 1(2): 98-101. doi:10.24911/JBCGenetics/183-1530603908

Web Style

Tabassum S, Otaibi ADA, Mutairi RFA, Mannai MA. ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy. https://www.jbcgenetics.com/?mno=302642721 [Access: November 14, 2024]. doi:10.24911/JBCGenetics/183-1530603908

AMA (American Medical Association) Style

Tabassum S, Otaibi ADA, Mutairi RFA, Mannai MA. ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy. JBCGenetics. 2018; 1(2): 98-101. doi:10.24911/JBCGenetics/183-1530603908


Vancouver/ICMJE Style

Tabassum S, Otaibi ADA, Mutairi RFA, Mannai MA. ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy. JBCGenetics. (2018), [cited November 14, 2024]; 1(2): 98-101. doi:10.24911/JBCGenetics/183-1530603908


Harvard Style

Tabassum, S., Otaibi, . A. D. A., Mutairi, . R. F. A. & Mannai, . M. A. (2018) ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy. JBCGenetics, 1 (2), 98-101. doi:10.24911/JBCGenetics/183-1530603908


Turabian Style

Tabassum, Sadia, Ali Dhohyan Al Otaibi, Rowim Fahad Al Mutairi, and Mohammed Al Mannai. 2018. ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy. Journal of Biochemical and Clinical Genetics, 1 (2), 98-101. doi:10.24911/JBCGenetics/183-1530603908


Chicago Style

Tabassum, Sadia, Ali Dhohyan Al Otaibi, Rowim Fahad Al Mutairi, and Mohammed Al Mannai. "ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy." Journal of Biochemical and Clinical Genetics 1 (2018), 98-101. doi:10.24911/JBCGenetics/183-1530603908


MLA (The Modern Language Association) Style

Tabassum, Sadia, Ali Dhohyan Al Otaibi, Rowim Fahad Al Mutairi, and Mohammed Al Mannai. "ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy." Journal of Biochemical and Clinical Genetics 1.2 (2018), 98-101. Print. doi:10.24911/JBCGenetics/183-1530603908


APA (American Psychological Association) Style

Tabassum, S., Otaibi, . A. D. A., Mutairi, . R. F. A. & Mannai, . M. A. (2018) ISCA2 Related Mitochondrial Disorder: A distinct cause of Infantile Leukodystrophy. Journal of Biochemical and Clinical Genetics, 1 (2), 98-101. doi:10.24911/JBCGenetics/183-1530603908




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