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Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Genomics. Uppsala University, Science for Life Laboratory, SciLifeLab.
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2014 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 22, no 7, 902-906 p.Article in journal (Refereed) Published
Abstract [en]

Isolated metabolic myopathies encompass a heterogeneous group of disorders, with mitochondrial myopathies being a subgroup, with depleted skeletal muscle energy production manifesting either by recurrent episodes of myoglobinuria or progressive muscle weakness. In this study, we investigated the genetic cause of a patient from a consanguineous family who presented with adolescent onset autosomal recessive mitochondrial myopathy. Analysis of enzyme activities of the five respiratory chain complexes in our patients' skeletal muscle showed severely impaired activities of iron sulfur (Fe-S)-dependent complexes I, II and III and mitochondrial aconitase. We employed exome sequencing combined with homozygosity mapping to identify a homozygous mutation, c.1A > T, in the FDX1L gene, which encodes the mitochondrial ferredoxin 2 (Fdx2) protein. The mutation disrupts the ATG initiation translation site resulting in severe reduction of Fdx2 content in the patient muscle and fibroblasts mitochondria. Fdx2 is the second component of the Fe-S cluster biogenesis machinery, the first being IscU that is associated with isolated mitochondrial myopathy. We suggest adding genetic analysis of FDX1L in cases of mitochondrial myopathy especially when associated with reduced activity of the respiratory chain complexes I, II and III.

Place, publisher, year, edition, pages
2014. Vol. 22, no 7, 902-906 p.
Keyword [en]
FDX1L gene, Fe-S cluster, respiratory chain, metabolic myopathy
National Category
Genetics Biological Sciences
URN: urn:nbn:se:uu:diva-229431DOI: 10.1038/ejhg.2013.269ISI: 000338342700012OAI: oai:DiVA.org:uu-229431DiVA: diva2:736791
Available from: 2014-08-08 Created: 2014-08-07 Last updated: 2014-08-08Bibliographically approved

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Halvardson, JonatanFeuk, Lars
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GenomicsScience for Life Laboratory, SciLifeLab
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