Article Text

Download PDFPDF
Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation
  1. A Saada1,
  2. A Shaag1,
  3. S Arnon2,
  4. T Dolfin2,
  5. C Miller1,
  6. D Fuchs-Telem1,
  7. A Lombes3,
  8. O Elpeleg1
  1. 1
    The Metabolic Disease Unit, Hadassah Hebrew University Medical Center, Jerusalem, Israel
  2. 2
    Department of Neonatology, Meir Medical Center, Kfar Saba, Israel
  3. 3
    INSERM 582, Hôpital de La Salpêtrière, Paris, France
  1. Professor O Elpeleg, Metabolic Disease Unit, Hadassah - Hebrew University Medical Center, Jerusalem, 91120, Israel; elpeleg{at}


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.

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.


  • Parental/guardian informed consent was obtained for publication of fig 1.

  • Competing interests: none declared.

  • Abbreviations:
    quantitative PCR
    transfer RNA