Journal of Medical Genetics 2007;44:784-786
SHORT REPORT
Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation
1 The Metabolic Disease Unit, Hadassah Hebrew University Medical Center, Jerusalem, Israel
2 Department of Neonatology, Meir Medical Center, Kfar Saba, Israel
3 INSERM 582, Hôpital de La Salpêtrière, Paris, France
Professor O Elpeleg, Metabolic Disease Unit, Hadassah - Hebrew University Medical Center, Jerusalem, 91120, Israel; elpeleg{at}cc.huji.ac.il
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.
Abbreviations: qPCR, quantitative PCR; tRNA, transfer RNA
CiteULike 
Complore 
Connotea 
Del.icio.us 
Digg 
Reddit 
Technorati What's this?
This article has been cited by other articles:
-
Zhu, X., Peng, X., Guan, M.-X., Yan, Q.
(2009). Pathogenic mutations of nuclear genes associated with mitochondrial disorders. Acta Biochim Biophys Sin
41: 179-187
[Abstract] [Full Text] -
Nozaki, Y., Matsunaga, N., Ishizawa, T., Ueda, T., Takeuchi, N.
(2008). HMRF1L is a human mitochondrial translation release factor involved in the decoding of the termination codons UAA and UAG.. GENES CELLS
13: 429-438
[Abstract] [Full Text]
- Full Text
- Full Text (PDF)
-
All Versions of this Article:
jmg.2007.053116v1
44/12/784 most recent - Submit a response
- Alert me when this article is cited
- Alert me when eLetters are posted
- Alert me if a correction is posted
- Citation Map
Services
- Email this link to a friend
- Similar articles in this journal
- Similar articles in PubMed
- Add article to my folders
- Download to citation manager
- Request Permissions
Citing Articles
Google Scholar
PubMed
Topic Collections
Bookmark with
Register for free content
The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.
Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.
