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Mitochondrial Ultrastructural Defects in NDUFS3-Related Disorder

Complex I, the largest multisubunit enzyme complex of the respiratory chain, has a vital role in the energy production of the cell, and the clinical spectrum of complex I deficiency varies from severe lactic acidosis in infants to muscle weakness in adults. Pathogenic variants of NDUFS3 (constitutes...

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Autores principales: Samanta, Debopam, Veerapandiyan, Aravindhan, Burrow, Thomas A, Gokden, Murat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757518/
https://www.ncbi.nlm.nih.gov/pubmed/36531773
http://dx.doi.org/10.4103/jpn.JPN_182_20
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author Samanta, Debopam
Veerapandiyan, Aravindhan
Burrow, Thomas A
Gokden, Murat
author_facet Samanta, Debopam
Veerapandiyan, Aravindhan
Burrow, Thomas A
Gokden, Murat
author_sort Samanta, Debopam
collection PubMed
description Complex I, the largest multisubunit enzyme complex of the respiratory chain, has a vital role in the energy production of the cell, and the clinical spectrum of complex I deficiency varies from severe lactic acidosis in infants to muscle weakness in adults. Pathogenic variants of NDUFS3 (constitutes the catalytic core of the complex I) have been reported in a small number of patients with variable phenotypes. We describe a girl with a history of infantile-onset nonepileptic myoclonus, who developed myopathy at the age of 2 years. Next-generation sequencing revealed compound heterozygous for two variants in the NDUSF3 gene. The electron-microscopic study of the skeletal muscle showed an increase in the number of mitochondria inside the myofibers; mitochondria were variably enlarged with some irregularity and were aligned perpendicular to the myofibrils in a stacked-up manner. This is the first description of mitochondrial ultrastructural abnormality in an individual with NDUFS3-related disorder.
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spelling pubmed-97575182022-12-17 Mitochondrial Ultrastructural Defects in NDUFS3-Related Disorder Samanta, Debopam Veerapandiyan, Aravindhan Burrow, Thomas A Gokden, Murat J Pediatr Neurosci Case Reports Complex I, the largest multisubunit enzyme complex of the respiratory chain, has a vital role in the energy production of the cell, and the clinical spectrum of complex I deficiency varies from severe lactic acidosis in infants to muscle weakness in adults. Pathogenic variants of NDUFS3 (constitutes the catalytic core of the complex I) have been reported in a small number of patients with variable phenotypes. We describe a girl with a history of infantile-onset nonepileptic myoclonus, who developed myopathy at the age of 2 years. Next-generation sequencing revealed compound heterozygous for two variants in the NDUSF3 gene. The electron-microscopic study of the skeletal muscle showed an increase in the number of mitochondria inside the myofibers; mitochondria were variably enlarged with some irregularity and were aligned perpendicular to the myofibrils in a stacked-up manner. This is the first description of mitochondrial ultrastructural abnormality in an individual with NDUFS3-related disorder. Wolters Kluwer - Medknow 2021 2021-07-19 /pmc/articles/PMC9757518/ /pubmed/36531773 http://dx.doi.org/10.4103/jpn.JPN_182_20 Text en Copyright: © 2021 Journal of Pediatric Neurosciences https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Reports
Samanta, Debopam
Veerapandiyan, Aravindhan
Burrow, Thomas A
Gokden, Murat
Mitochondrial Ultrastructural Defects in NDUFS3-Related Disorder
title Mitochondrial Ultrastructural Defects in NDUFS3-Related Disorder
title_full Mitochondrial Ultrastructural Defects in NDUFS3-Related Disorder
title_fullStr Mitochondrial Ultrastructural Defects in NDUFS3-Related Disorder
title_full_unstemmed Mitochondrial Ultrastructural Defects in NDUFS3-Related Disorder
title_short Mitochondrial Ultrastructural Defects in NDUFS3-Related Disorder
title_sort mitochondrial ultrastructural defects in ndufs3-related disorder
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757518/
https://www.ncbi.nlm.nih.gov/pubmed/36531773
http://dx.doi.org/10.4103/jpn.JPN_182_20
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