The genotypic and phenotypic spectrum of MTO1 deficiency
Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein ex...
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| Published in | Molecular genetics and metabolism Vol. 123; no. 1; pp. 28 - 42 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
01.01.2018
Academic Press |
| Subjects | |
| Online Access | Get full text |
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| Abstract | Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been linked to human early-onset combined oxidative phosphorylation deficiency associated with hypertrophic cardiomyopathy, often referred to as combined oxidative phosphorylation deficiency-10 (COXPD10).
Thirty five cases of MTO1 deficiency were identified and reviewed through international collaboration. The cases of two female siblings, who presented at 1 and 2years of life with seizures, global developmental delay, hypotonia, elevated lactate and complex I and IV deficiency on muscle biopsy but without cardiomyopathy, are presented in detail.
For the description of phenotypic features, the denominator varies as the literature was insufficient to allow for complete ascertainment of all data for the 35 cases. An extensive review of all known MTO1 deficiency cases revealed the most common features at presentation to be lactic acidosis (LA) (21/34; 62% cases) and hypertrophic cardiomyopathy (15/34; 44% cases). Eventually lactic acidosis and hypertrophic cardiomyopathy are described in 35/35 (100%) and 27/34 (79%) of patients with MTO1 deficiency, respectively; with global developmental delay/intellectual disability present in 28/29 (97%), feeding difficulties in 17/35 (49%), failure to thrive in 12/35 (34%), seizures in 12/35 (34%), optic atrophy in 11/21 (52%) and ataxia in 7/34 (21%). There are 19 different pathogenic MTO1 variants identified in these 35 cases: one splice-site, 3 frameshift and 15 missense variants. None have bi-allelic variants that completely inactivate MTO1; however, patients where one variant is truncating (i.e. frameshift) while the second one is a missense appear to have a more severe, even fatal, phenotype. These data suggest that complete loss of MTO1 is not viable. A ketogenic diet may have exerted a favourable effect on seizures in 2/5 patients.
MTO1 deficiency is lethal in some but not all cases, and a genotype-phenotype relation is suggested. Aside from lactic acidosis and cardiomyopathy, developmental delay and other phenotypic features affecting multiple organ systems are often present in these patients, suggesting a broader spectrum than hitherto reported. The diagnosis should be suspected on clinical features and the presence of markers of mitochondrial dysfunction in body fluids, especially low residual complex I, III and IV activity in muscle. Molecular confirmation is required and targeted genomic testing may be the most efficient approach. Although subjective clinical improvement was observed in a small number of patients on therapies such as ketogenic diet and dichloroacetate, no evidence-based effective therapy exists.
•The phenotypic and genotypic spectrum of MTO1 deficiency is more variable than previously reported•Hallmark features: cardiomyopathy, lactic acidosis, developmental delay, failure to thrive, seizures, optic atrophy, ataxia•19 pathogenic MTO1 mutations (splice-site, frameshift, missense) were identified with a geno-phenotype relation•Suspect MTO1 deficiency based on clinical features, mitochondrial markers in body fluids, low complex I III IV activity•Although ketogenic diet exerted subjective improvement in some cases, there is exists no evidence-based effective therapy |
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| AbstractList | Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been linked to human early-onset combined oxidative phosphorylation deficiency associated with hypertrophic cardiomyopathy, often referred to as combined oxidative phosphorylation deficiency-10 (COXPD10).
Thirty five cases of MTO1 deficiency were identified and reviewed through international collaboration. The cases of two female siblings, who presented at 1 and 2years of life with seizures, global developmental delay, hypotonia, elevated lactate and complex I and IV deficiency on muscle biopsy but without cardiomyopathy, are presented in detail.
For the description of phenotypic features, the denominator varies as the literature was insufficient to allow for complete ascertainment of all data for the 35 cases. An extensive review of all known MTO1 deficiency cases revealed the most common features at presentation to be lactic acidosis (LA) (21/34; 62% cases) and hypertrophic cardiomyopathy (15/34; 44% cases). Eventually lactic acidosis and hypertrophic cardiomyopathy are described in 35/35 (100%) and 27/34 (79%) of patients with MTO1 deficiency, respectively; with global developmental delay/intellectual disability present in 28/29 (97%), feeding difficulties in 17/35 (49%), failure to thrive in 12/35 (34%), seizures in 12/35 (34%), optic atrophy in 11/21 (52%) and ataxia in 7/34 (21%). There are 19 different pathogenic MTO1 variants identified in these 35 cases: one splice-site, 3 frameshift and 15 missense variants. None have bi-allelic variants that completely inactivate MTO1; however, patients where one variant is truncating (i.e. frameshift) while the second one is a missense appear to have a more severe, even fatal, phenotype. These data suggest that complete loss of MTO1 is not viable. A ketogenic diet may have exerted a favourable effect on seizures in 2/5 patients.
MTO1 deficiency is lethal in some but not all cases, and a genotype-phenotype relation is suggested. Aside from lactic acidosis and cardiomyopathy, developmental delay and other phenotypic features affecting multiple organ systems are often present in these patients, suggesting a broader spectrum than hitherto reported. The diagnosis should be suspected on clinical features and the presence of markers of mitochondrial dysfunction in body fluids, especially low residual complex I, III and IV activity in muscle. Molecular confirmation is required and targeted genomic testing may be the most efficient approach. Although subjective clinical improvement was observed in a small number of patients on therapies such as ketogenic diet and dichloroacetate, no evidence-based effective therapy exists. BACKGROUNDMitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been linked to human early-onset combined oxidative phosphorylation deficiency associated with hypertrophic cardiomyopathy, often referred to as combined oxidative phosphorylation deficiency-10 (COXPD10). MATERIAL AND METHODSThirty five cases of MTO1 deficiency were identified and reviewed through international collaboration. The cases of two female siblings, who presented at 1 and 2years of life with seizures, global developmental delay, hypotonia, elevated lactate and complex I and IV deficiency on muscle biopsy but without cardiomyopathy, are presented in detail. RESULTSFor the description of phenotypic features, the denominator varies as the literature was insufficient to allow for complete ascertainment of all data for the 35 cases. An extensive review of all known MTO1 deficiency cases revealed the most common features at presentation to be lactic acidosis (LA) (21/34; 62% cases) and hypertrophic cardiomyopathy (15/34; 44% cases). Eventually lactic acidosis and hypertrophic cardiomyopathy are described in 35/35 (100%) and 27/34 (79%) of patients with MTO1 deficiency, respectively; with global developmental delay/intellectual disability present in 28/29 (97%), feeding difficulties in 17/35 (49%), failure to thrive in 12/35 (34%), seizures in 12/35 (34%), optic atrophy in 11/21 (52%) and ataxia in 7/34 (21%). There are 19 different pathogenic MTO1 variants identified in these 35 cases: one splice-site, 3 frameshift and 15 missense variants. None have bi-allelic variants that completely inactivate MTO1; however, patients where one variant is truncating (i.e. frameshift) while the second one is a missense appear to have a more severe, even fatal, phenotype. These data suggest that complete loss of MTO1 is not viable. A ketogenic diet may have exerted a favourable effect on seizures in 2/5 patients. CONCLUSIONMTO1 deficiency is lethal in some but not all cases, and a genotype-phenotype relation is suggested. Aside from lactic acidosis and cardiomyopathy, developmental delay and other phenotypic features affecting multiple organ systems are often present in these patients, suggesting a broader spectrum than hitherto reported. The diagnosis should be suspected on clinical features and the presence of markers of mitochondrial dysfunction in body fluids, especially low residual complex I, III and IV activity in muscle. Molecular confirmation is required and targeted genomic testing may be the most efficient approach. Although subjective clinical improvement was observed in a small number of patients on therapies such as ketogenic diet and dichloroacetate, no evidence-based effective therapy exists. Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been linked to human early-onset combined oxidative phosphorylation deficiency associated with hypertrophic cardiomyopathy, often referred to as combined oxidative phosphorylation deficiency-10 (COXPD10). Thirty five cases of MTO1 deficiency were identified and reviewed through international collaboration. The cases of two female siblings, who presented at 1 and 2years of life with seizures, global developmental delay, hypotonia, elevated lactate and complex I and IV deficiency on muscle biopsy but without cardiomyopathy, are presented in detail. For the description of phenotypic features, the denominator varies as the literature was insufficient to allow for complete ascertainment of all data for the 35 cases. An extensive review of all known MTO1 deficiency cases revealed the most common features at presentation to be lactic acidosis (LA) (21/34; 62% cases) and hypertrophic cardiomyopathy (15/34; 44% cases). Eventually lactic acidosis and hypertrophic cardiomyopathy are described in 35/35 (100%) and 27/34 (79%) of patients with MTO1 deficiency, respectively; with global developmental delay/intellectual disability present in 28/29 (97%), feeding difficulties in 17/35 (49%), failure to thrive in 12/35 (34%), seizures in 12/35 (34%), optic atrophy in 11/21 (52%) and ataxia in 7/34 (21%). There are 19 different pathogenic MTO1 variants identified in these 35 cases: one splice-site, 3 frameshift and 15 missense variants. None have bi-allelic variants that completely inactivate MTO1; however, patients where one variant is truncating (i.e. frameshift) while the second one is a missense appear to have a more severe, even fatal, phenotype. These data suggest that complete loss of MTO1 is not viable. A ketogenic diet may have exerted a favourable effect on seizures in 2/5 patients. MTO1 deficiency is lethal in some but not all cases, and a genotype-phenotype relation is suggested. Aside from lactic acidosis and cardiomyopathy, developmental delay and other phenotypic features affecting multiple organ systems are often present in these patients, suggesting a broader spectrum than hitherto reported. The diagnosis should be suspected on clinical features and the presence of markers of mitochondrial dysfunction in body fluids, especially low residual complex I, III and IV activity in muscle. Molecular confirmation is required and targeted genomic testing may be the most efficient approach. Although subjective clinical improvement was observed in a small number of patients on therapies such as ketogenic diet and dichloroacetate, no evidence-based effective therapy exists. •The phenotypic and genotypic spectrum of MTO1 deficiency is more variable than previously reported•Hallmark features: cardiomyopathy, lactic acidosis, developmental delay, failure to thrive, seizures, optic atrophy, ataxia•19 pathogenic MTO1 mutations (splice-site, frameshift, missense) were identified with a geno-phenotype relation•Suspect MTO1 deficiency based on clinical features, mitochondrial markers in body fluids, low complex I III IV activity•Although ketogenic diet exerted subjective improvement in some cases, there is exists no evidence-based effective therapy • The phenotypic and genotypic spectrum of MTO1 deficiency is more variable than previously reported • Hallmark features: cardiomyopathy, lactic acidosis, developmental delay, failure to thrive, seizures, optic atrophy, ataxia • 19 pathogenic MTO1 mutations (splice-site, frameshift, missense) were identified with a geno-phenotype relation • Suspect MTO1 deficiency based on clinical features, mitochondrial markers in body fluids, low complex I III IV activity • Although ketogenic diet exerted subjective improvement in some cases, there is exists no evidence-based effective therapy |
| Author | Champion, Michael Tarnopolsky, Mark Dursun, Ali Kluijtmans, Leo A.J. Brunner-Krainz, Michaela Ross, Colin J. Mayr, Johannes A. Kotzaeridou, Urania Garber, Ian Horvath, Rita Santra, Saikat Tarailo-Graovac, Maja Morris, Andrew A. O'Byrne, James J. Deshpande, Charu Husain, Ralf A. Wortmann, Saskia B. Ghani, Aisha Smeitink, Jan Freisinger, Peter Taylor, Robert W. Barić, Ivo Ozgul, Riza K. Salvarinova, Ramona van Karnebeek, Clara D.M. Wasserman, Wyeth W. Rodenburg, Richard J. Haack, Tobias B. Wevers, Ron A. McFarland, Robert Prokisch, Holger Ting, Teck Wah Engelke, Udo F. |
| AuthorAffiliation | c BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada l John Walton Muscular Dystrophy Research Centre, Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK r Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada t Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands g Clinical Genetics Unit, Guys and St Thomas' NHS Foundation Trust, London, UK x Department of Pediatrics, Medical University Graz, Graz, Austria k Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany f Department of Inherited Metabolic Disease, Guy's and St Thomas' NHS Foundation Trusts, Evelina London Children's Hospital, London, UK u Department of Pediatrics, Division of Neuromuscular and Neurometabolic Diseases, McMaster University Medical Centre, Hamilton, ON, Canada v Institute of Huma |
| AuthorAffiliation_xml | – name: e Institute of Physiology and Biochemistry, Faculty of Biology, The University of Belgrade, Belgrade, Serbia – name: b Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada – name: n Centre for Inborn Metabolic Disorders, Department of Neuropediatrics, Jena University Hospital, Jena, Germany – name: bb Departments of Pediatrics and Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands – name: o Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands – name: c BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada – name: m University Hospital Center Zagreb & School of Medicine, University of Zagreb, Croatia – name: f Department of Inherited Metabolic Disease, Guy's and St Thomas' NHS Foundation Trusts, Evelina London Children's Hospital, London, UK – name: u Department of Pediatrics, Division of Neuromuscular and Neurometabolic Diseases, McMaster University Medical Centre, Hamilton, ON, Canada – name: p Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany – name: y Genetics Service, Department of Pediatrics, KK Women's and Children's Hospital, Singapore – name: l John Walton Muscular Dystrophy Research Centre, Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK – name: s Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Steelhouse Lane, Birmingham, UK – name: v Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany – name: d Department of Medical Genetics, University of British Columbia, Vancouver, Canada – name: aa Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada – name: a Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada – name: z Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK – name: w Department of Pediatrics, Salzburger Landeskliniken (SALK), Paracelsus Medical University (PMU), Salzburg, Austria – name: j Institute of Human Genetics, Technische Universität München, Munich, Germany – name: t Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands – name: x Department of Pediatrics, Medical University Graz, Graz, Austria – name: r Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada – name: g Clinical Genetics Unit, Guys and St Thomas' NHS Foundation Trust, London, UK – name: q Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK – name: k Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany – name: h Hacettepe University, Faculty of Medicine, Institute of Child Health, Department of Pediatric Metabolism, Ankara, Turkey – name: i Department of Pediatrics, Klinikum Reutlingen, Reutlingen, Germany |
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| IngestDate | Tue Sep 17 21:23:16 EDT 2024 Fri Oct 25 23:15:24 EDT 2024 Thu Sep 26 17:22:12 EDT 2024 Sat Sep 28 08:25:36 EDT 2024 Fri Feb 23 02:30:31 EST 2024 |
| IsDoiOpenAccess | true |
| IsOpenAccess | true |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 1 |
| Keywords | Oxidative Phosphorylation Defect Q-TOF WES MRI Cardiomyopathy GDD OXPHOS MTO1 Mitochondrial disease Ketogenic diet HCM Mitochondrial translation optimization 1 ID Lactic acidosis |
| Language | English |
| License | This is an open access article under the CC BY license. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/). |
| LinkModel | DirectLink |
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| Notes | ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3 Authors contributed equally. Current affiliation: Departments of Biochemistry, Molecular Biology and Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada. |
| OpenAccessLink | https://www.sciencedirect.com/science/article/pii/S109671921730478X |
| PMID | 29331171 |
| PQID | 1989589451 |
| PQPubID | 23479 |
| PageCount | 15 |
| ParticipantIDs | pubmedcentral_primary_oai_pubmedcentral_nih_gov_5780301 proquest_miscellaneous_1989589451 crossref_primary_10_1016_j_ymgme_2017_11_003 pubmed_primary_29331171 elsevier_sciencedirect_doi_10_1016_j_ymgme_2017_11_003 |
| PublicationCentury | 2000 |
| PublicationDate | January 2018 2018-01-00 20180101 |
| PublicationDateYYYYMMDD | 2018-01-01 |
| PublicationDate_xml | – month: 01 year: 2018 text: January 2018 |
| PublicationDecade | 2010 |
| PublicationPlace | United States |
| PublicationPlace_xml | – name: United States |
| PublicationTitle | Molecular genetics and metabolism |
| PublicationTitleAlternate | Mol Genet Metab |
| PublicationYear | 2018 |
| Publisher | Elsevier Inc Academic Press |
| Publisher_xml | – name: Elsevier Inc – name: Academic Press |
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| Snippet | Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders... BACKGROUNDMitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal... • The phenotypic and genotypic spectrum of MTO1 deficiency is more variable than previously reported • Hallmark features: cardiomyopathy, lactic acidosis,... |
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| SubjectTerms | Adolescent Biopsy Brain - diagnostic imaging Brain - physiopathology Cardiomyopathy Cardiomyopathy, Hypertrophic - diagnostic imaging Cardiomyopathy, Hypertrophic - genetics Cardiomyopathy, Hypertrophic - physiopathology Carrier Proteins - genetics Carrier Proteins - metabolism Child Child, Preschool Female Frameshift Mutation Hepatic Encephalopathy - diagnostic imaging Hepatic Encephalopathy - genetics Hepatic Encephalopathy - physiopathology Humans Infant Infant, Newborn Ketogenic diet Lactic acidosis Male Metabolism, Inborn Errors - diagnostic imaging Metabolism, Inborn Errors - genetics Metabolism, Inborn Errors - physiopathology Mitochondrial disease Mitochondrial Diseases - genetics Mitochondrial Diseases - metabolism Mitochondrial Diseases - physiopathology Mitochondrial translation optimization 1 Oxidative Phosphorylation Oxidative Phosphorylation Defect RNA-Binding Proteins |
| Title | The genotypic and phenotypic spectrum of MTO1 deficiency |
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