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 CASE REPORT
Year : 2021  |  Volume : 16  |  Issue : 4  |  Page : 299-302

Mitochondrial ultrastructural defects in NDUFS3-related disorder


1 Neurology Section, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA
2 Genetics Section, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA
3 Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA

Correspondence Address:
Dr. Debopam Samanta
Neurology Section, Department of Pediatrics, University of Arkansas for Medical Sciences, 1 Children’s Way, Little Rock, AR 72202
USA
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jpn.JPN_182_20

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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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