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Case Reports
. 2007 Dec;44(12):784-6.
doi: 10.1136/jmg.2007.053116. Epub 2007 Sep 14.

Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation

A Saada  1 , A Shaag, S Arnon, T Dolfin, C Miller, D Fuchs-Telem, A Lombes, O Elpeleg
Affiliations
Case Reports

Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation

A Saada et al. J Med Genet. 2007 Dec.

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.

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Conflict of interest statement

Competing interests: none declared.

References

    1. Miller C, Saada A, Shaul N, Shabtai N, Ben‐Shalom E, Shaag A, Hershkovitz E, Elpeleg O. Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation. Ann Neurol 200456734–738. - PubMed
    1. Sarzi E, Bourdon A, Chretien D, Zarhrate M, Corcos J, Slama A, Cormier‐Daire V, de Lonlay P, Munnich A, Rotig A. Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood. J Pediatr 2007150531–534. - PubMed
    1. Arnon S, Aviram R, Dolfin T, Regev R, Litmanovits I, Tepper R, Elpeleg O. Mitochondrial DNA depletion presenting prenatally with skin edema and multisystem disease immediately after birth. Prenat Diagn 20022234–37. - PubMed
    1. Dennis P P, Young R F. Regulation of ribosomal protein synthesis in Escherichia coli B/r. J Bacteriol 1975121994–999. - PMC - PubMed
    1. Cavdar Koc E, Burkhart W, Blackburn K, Moseley A, Spremulli L L. The small subunit of the mammalian mitochondrial ribosome. Identification of the full complement of ribosomal proteins present. J Biol Chem 200127619363–19374. - PubMed

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