Abstract
Three patients born to the same set of consanguineous parents presented with antenatal skin oedema, hypotonia, cardiomyopathy and tubulopathy. The enzymatic activities of multiple mitochondrial respiratory chain complexes were reduced in muscle. Marked reduction of 12s rRNA, the core of the mitochondrial small ribosomal subunit, was found in fibroblasts. Homozygosity mapping led to the identification of a mutation in the MRPS22 gene, which encodes a mitochondrial ribosomal protein. Transfection of the patient cells with wild-type MRPS22 cDNA increased the 12s rRNA content and normalised the enzymatic activities. Quantification of mitochondrial transcripts is advisable in patients with multiple defects of the mitochondrial respiratory chain.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Cardiomyopathy, Hypertrophic / congenital
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Cardiomyopathy, Hypertrophic / genetics*
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Cells, Cultured / metabolism
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Consanguinity
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Conserved Sequence
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Edema / congenital
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Edema / genetics
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Fatal Outcome
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Female
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Fetal Diseases / diagnostic imaging
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Fetal Diseases / genetics*
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Humans
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Infant, Newborn
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Kidney Diseases / congenital
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Kidney Diseases / genetics*
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Mitochondria, Muscle / enzymology
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Mitochondrial Diseases / genetics*
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Mitochondrial Diseases / pathology
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Mitochondrial Myopathies / genetics
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Mitochondrial Proteins / genetics*
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Mitochondrial Proteins / physiology
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RNA, Ribosomal / metabolism
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Recombinant Fusion Proteins / physiology
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Ribosomal Proteins / genetics*
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Ribosomal Proteins / physiology
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Transfection
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Ultrasonography
Substances
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MRPS22 protein, human
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Mitochondrial Proteins
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RNA, Ribosomal
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RNA, ribosomal, 12S
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Recombinant Fusion Proteins
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Ribosomal Proteins