Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations
Disorders caused by defects in the mitochondrial translation system are clinically and genetically heterogeneous. The elongation phase of mitochondrial protein synthesis requires, among many other components, three nuclear-encoded elongation factors: EFTu (TUFM; 602389), EFTs (TSFM; 604723), and EFG...
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doaj-9cd2521ff6734ef0bbb8926c6affe40f2020-11-24T22:38:45ZengElsevierMolecular Genetics and Metabolism Reports2214-42692015-06-013C51010.1016/j.ymgmr.2015.01.004Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutationsKirstine Ravn0Bitten Schönewolf-Greulich1Rikke M. Hansen2Anna-Helene Bohr3Morten Duno4Flemming Wibrand5Elsebet Ostergaard6Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, Copenhagen, DenmarkDepartment of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, DenmarkPediatrics Department, Herning Hospital, Herning, DenmarkPediatrics Department, Nykoebing Falster Hospital, Nykoebing Falster, DenmarkDepartment of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, Copenhagen, DenmarkDepartment of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, Copenhagen, DenmarkDepartment of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, Copenhagen, DenmarkDisorders caused by defects in the mitochondrial translation system are clinically and genetically heterogeneous. The elongation phase of mitochondrial protein synthesis requires, among many other components, three nuclear-encoded elongation factors: EFTu (TUFM; 602389), EFTs (TSFM; 604723), and EFG1 (GFM1; 606639). Mutations have been identified in the genes encoding all three elongation factors, and they result in combined respiratory chain deficiencies and severe phenotypes with an early fatal outcome. So far, only eleven patients have been reported with mutations in GFM1. Here we describe an additional three patients with novel GFM1 mutations. Our results confirm the tissue-specific effect of GFM1 mutations, since we found only slightly decreased respiratory chain enzyme activities in muscle and fibroblasts, but a severe deficiency in the liver. Hence, a thorough biochemical evaluation is important to guide genetic investigation in patients suspected for a mitochondrial disorder.http://www.sciencedirect.com/science/article/pii/S2214426915000063EFG1 (GFM1, 606639)Neonatal mitochondrial hepatoencephalopathyMitochondrial disorder |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Kirstine Ravn Bitten Schönewolf-Greulich Rikke M. Hansen Anna-Helene Bohr Morten Duno Flemming Wibrand Elsebet Ostergaard |
spellingShingle |
Kirstine Ravn Bitten Schönewolf-Greulich Rikke M. Hansen Anna-Helene Bohr Morten Duno Flemming Wibrand Elsebet Ostergaard Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations Molecular Genetics and Metabolism Reports EFG1 (GFM1, 606639) Neonatal mitochondrial hepatoencephalopathy Mitochondrial disorder |
author_facet |
Kirstine Ravn Bitten Schönewolf-Greulich Rikke M. Hansen Anna-Helene Bohr Morten Duno Flemming Wibrand Elsebet Ostergaard |
author_sort |
Kirstine Ravn |
title |
Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations |
title_short |
Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations |
title_full |
Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations |
title_fullStr |
Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations |
title_full_unstemmed |
Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations |
title_sort |
neonatal mitochondrial hepatoencephalopathy caused by novel gfm1 mutations |
publisher |
Elsevier |
series |
Molecular Genetics and Metabolism Reports |
issn |
2214-4269 |
publishDate |
2015-06-01 |
description |
Disorders caused by defects in the mitochondrial translation system are clinically and genetically heterogeneous. The elongation phase of mitochondrial protein synthesis requires, among many other components, three nuclear-encoded elongation factors: EFTu (TUFM; 602389), EFTs (TSFM; 604723), and EFG1 (GFM1; 606639). Mutations have been identified in the genes encoding all three elongation factors, and they result in combined respiratory chain deficiencies and severe phenotypes with an early fatal outcome. So far, only eleven patients have been reported with mutations in GFM1. Here we describe an additional three patients with novel GFM1 mutations. Our results confirm the tissue-specific effect of GFM1 mutations, since we found only slightly decreased respiratory chain enzyme activities in muscle and fibroblasts, but a severe deficiency in the liver. Hence, a thorough biochemical evaluation is important to guide genetic investigation in patients suspected for a mitochondrial disorder. |
topic |
EFG1 (GFM1, 606639) Neonatal mitochondrial hepatoencephalopathy Mitochondrial disorder |
url |
http://www.sciencedirect.com/science/article/pii/S2214426915000063 |
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