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

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 mitochon...

Full description

Saved in:
Bibliographic Details
Published in:Journal of medical genetics 2007-12, Vol.44 (12), p.784-786
Main Authors: Saada, A, Shaag, A, Arnon, S, Dolfin, T, Miller, C, Fuchs-Telem, D, Lombes, A, Elpeleg, O
Format: Article
Language:English
Subjects:
Biological and medical sciences
Cardiomyopathy, Hypertrophic - congenital
Cardiomyopathy, Hypertrophic - genetics
Cells, Cultured - metabolism
Consanguinity
Conserved Sequence
Defects
Deoxyribonucleic acid
DNA
Edema - congenital
Edema - genetics
Errors of metabolism
Fatal Outcome
Female
Fetal Diseases - diagnostic imaging
Fetal Diseases - genetics
Fundamental and applied biological sciences. Psychology
General aspects. Genetic counseling
Genes
Genetic testing
Genetics of eukaryotes. Biological and molecular evolution
Genomes
Humans
Infant, Newborn
Kidney Diseases - congenital
Kidney Diseases - genetics
Medical genetics
Medical sciences
Metabolic diseases
Miscellaneous hereditary metabolic disorders
Mitochondria, Muscle - enzymology
Mitochondrial Diseases - genetics
Mitochondrial Diseases - pathology
Mitochondrial DNA
Mitochondrial Myopathies - genetics
Mitochondrial Proteins - genetics
Mitochondrial Proteins - physiology
Molecular and cellular biology
Mutation
Patients
Proteins
Recombinant Fusion Proteins - physiology
Ribosomal Proteins - genetics
Ribosomal Proteins - physiology
RNA, Ribosomal - metabolism
Short Report
Transfection
Ultrasonography
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.2007.053116