Cargando…
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...
Autores principales: | , , , |
---|---|
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 |
_version_ | 1784851835534704640 |
---|---|
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. |
format | Online Article Text |
id | pubmed-9757518 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT samantadebopam mitochondrialultrastructuraldefectsinndufs3relateddisorder AT veerapandiyanaravindhan mitochondrialultrastructuraldefectsinndufs3relateddisorder AT burrowthomasa mitochondrialultrastructuraldefectsinndufs3relateddisorder AT gokdenmurat mitochondrialultrastructuraldefectsinndufs3relateddisorder |