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Tytuł pozycji:

Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.

Tytuł:
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.
Autorzy:
Horga A; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK. .; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK. .; Neuromuscular Diseases Unit, Department of Neurology, Hospital Clínico San Carlos and Instituto de Investigación Sanitaria San Carlos (IdISSC), 28040, Madrid, Spain. .
Manole A; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.; Department of Molecular Neuroscience, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
Mitchell AL; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Royal Free Campus, London, NW3 2PF, UK.
Bugiardini E; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
Hargreaves IP; Neurometabolic Unit, the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
Mowafi W; Neurosciences Department, Calderdale Royal Hospital, Halifax, HX3 0PW, UK.
Bettencourt C; Queen Square Brain Bank for Neurological Disorders, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, WC1N 1PJ, UK.
Blakely EL; Institute of Neuroscience, Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
He L; Institute of Neuroscience, Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
Polke JM; Neurogenetic Unit, the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
Woodward CE; Neurogenetic Unit, the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
Dalla Rosa I; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Royal Free Campus, London, NW3 2PF, UK.
Shah S; Lysholm Department of Neuroradiology, the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
Pittman AM; Department of Molecular Neuroscience, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
Quinlivan R; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
Reilly MM; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
Taylor RW; Institute of Neuroscience, Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
Holt IJ; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Royal Free Campus, London, NW3 2PF, UK.; Biodonostia Health Research Institute, 20014, San Sebastián, Spain.; Ikerbasque, Basque Foundation for Science, 48013, Bilbao, Spain.
Hanna MG; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
Pitceathly RDS; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
Spinazzola A; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Royal Free Campus, London, NW3 2PF, UK.
Houlden H; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK. .; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK. .; Department of Molecular Neuroscience, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK. .
Źródło:
Molecular biology reports [Mol Biol Rep] 2021 Mar; Vol. 48 (3), pp. 2093-2104. Date of Electronic Publication: 2021 Mar 19.
Typ publikacji:
Case Reports; Journal Article
Język:
English
Imprint Name(s):
Original Publication: Dordrecht, Boston, Reidel.
MeSH Terms:
Chromosomes, Human, Pair 2/*genetics
Mitochondrial Diseases/*genetics
Mitochondrial Proteins/*genetics
Ribosomal Proteins/*genetics
Uniparental Disomy/*genetics
Adolescent ; Base Sequence ; Brain/diagnostic imaging ; Brain/pathology ; Child, Preschool ; Female ; Fibroblasts/pathology ; Homozygote ; Humans ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Mitochondrial Diseases/pathology ; Muscle, Skeletal/metabolism ; Mutation/genetics ; Oxidative Phosphorylation ; Protein Biosynthesis ; Young Adult
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Grant Information:
MR/K000608/1 United Kingdom MRC_ Medical Research Council; MC_PC_13029/2 United Kingdom MRC_ Medical Research Council; MC_PC_13029 United Kingdom MRC_ Medical Research Council; MR/S002065/1 United Kingdom MRC_ Medical Research Council
Contributed Indexing:
Keywords: MRPL44; Mitochondrial disease; Oxidative phosphorylation; Uniparental disomy; Whole-exome sequencing
Substance Nomenclature:
0 (Mitochondrial Proteins)
0 (Ribosomal Proteins)
0 (mitochondrial ribosomal protein L44, human)
Entry Date(s):
Date Created: 20210320 Date Completed: 20210519 Latest Revision: 20240320
Update Code:
20240320
DOI:
10.1007/s11033-021-06188-1
PMID:
33742325
Czasopismo naukowe
Mutations in nuclear-encoded protein subunits of the mitochondrial ribosome are an increasingly recognised cause of oxidative phosphorylation system (OXPHOS) disorders. Among them, mutations in the MRPL44 gene, encoding a structural protein of the large subunit of the mitochondrial ribosome, have been identified in four patients with OXPHOS defects and early-onset hypertrophic cardiomyopathy with or without additional clinical features. A 23-year-old individual with cardiac and skeletal myopathy, neurological involvement, and combined deficiency of OXPHOS complexes in skeletal muscle was clinically and genetically investigated. Analysis of whole-exome sequencing data revealed a homozygous mutation in MRPL44 (c.467 T > G), which was not present in the biological father, and a region of homozygosity involving most of chromosome 2, raising the possibility of uniparental disomy. Short-tandem repeat and genome-wide SNP microarray analyses of the family trio confirmed complete maternal uniparental isodisomy of chromosome 2. Mitochondrial ribosome assembly and mitochondrial translation were assessed in patient derived-fibroblasts. These studies confirmed that c.467 T > G affects the stability or assembly of the large subunit of the mitochondrial ribosome, leading to impaired mitochondrial protein synthesis and decreased levels of multiple OXPHOS components. This study provides evidence of complete maternal uniparental isodisomy of chromosome 2 in a patient with MRPL44-related disease, and confirms that MRLP44 mutations cause a mitochondrial translation defect that may present as a multisystem disorder with neurological involvement.

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