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They are caused by pathogenic variants in mitochondrial or nuclear DNA that disrupt mitochondrial structure and\/or function, leading to impaired oxidative phosphorylation (OXPHOS). One emerging subcategory of PMDs involves defective phospholipid metabolism. Cardiolipin, the signature phospholipid of mitochondria, resides primarily in the inner mitochondrial membrane, where it is biosynthesized and remodelled via multiple enzymes and is fundamental to several aspects of mitochondrial biology. Genes that contribute to cardiolipin biosynthesis have recently been linked with PMD. However, the pathophysiological mechanisms that underpin human cardiolipin-related PMDs are not fully characterized.<\/jats:p>\n                  <jats:p>Here, we report six individuals, from three independent families, harbouring biallelic variants in PTPMT1, a mitochondrial tyrosine phosphatase required for de novo cardiolipin biosynthesis. All patients presented with a complex, neonatal\/infantile onset neurological and neurodevelopmental syndrome comprising developmental delay, microcephaly, facial dysmorphism, epilepsy, spasticity, cerebellar ataxia and nystagmus, sensorineural hearing loss, optic atrophy and bulbar dysfunction. Brain MRI revealed a variable combination of corpus callosum thinning, cerebellar atrophy and white matter changes.<\/jats:p>\n                  <jats:p>Using patient-derived fibroblasts and skeletal muscle tissue, combined with cellular rescue experiments, we characterized the molecular defects associated with mutant PTPMT1 and confirmed the downstream pathogenic effects that loss of PTPMT1 has on mitochondrial structure and function. To further characterize the functional role of PTPMT1 in cardiolipin homeostasis, we created a ptpmt1 knockout zebrafish. This model had abnormalities in body size, developmental alterations, decreased total cardiolipin levels and OXPHOS deficiency.<\/jats:p>\n                  <jats:p>Together, these data indicate that loss of PTPMT1 function is associated with a new autosomal recessive PMD caused by impaired cardiolipin metabolism, highlighting the contribution of aberrant cardiolipin metabolism towards human disease and emphasizing the importance of normal cardiolipin homeostasis during neurodevelopment.<\/jats:p>","DOI":"10.1093\/brain\/awae268","type":"journal-article","created":{"date-parts":[[2024,8,21]],"date-time":"2024-08-21T23:43:49Z","timestamp":1724283829000},"page":"647-662","source":"Crossref","is-referenced-by-count":14,"title":["Biallelic\n                    <i>PTPMT1<\/i>\n                    variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome"],"prefix":"10.1093","volume":"148","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1020-1848","authenticated-orcid":false,"given":"Micol","family":"Falabella","sequence":"first","affiliation":[{"name":"Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5519-0313","authenticated-orcid":false,"given":"Chiara","family":"Pizzamiglio","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology , London WC1N 3BG ,","place":["UK"]},{"name":"NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis Carlos","family":"Tabara","sequence":"additional","affiliation":[{"name":"Medical Research Council Mitochondrial Biology Unit, University of Cambridge , Cambridge CB2 0XY ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Munro","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, University of Cambridge , Cambridge CB2 3EB ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed S","family":"Abdel-Hamid","sequence":"additional","affiliation":[{"name":"Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre , Cairo 12622 ,","place":["Egypt"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ece","family":"Sonmezler","sequence":"additional","affiliation":[{"name":"Department of Medical Biology, Faculty of Medicine, Dokuz Eyl\u00fcl University , Izmir 35340 ,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0612-5819","authenticated-orcid":false,"given":"William L","family":"Macken","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology , London WC1N 3BG ,","place":["UK"]},{"name":"NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shanti","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Tilokani","sequence":"additional","affiliation":[{"name":"Medical Research Council Mitochondrial Biology Unit, University of Cambridge , Cambridge CB2 0XY ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Padraig J","family":"Flannery","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub , London WC1N 3BH ,","place":["UK"]},{"name":"Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health , London WC1N 1EH ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina","family":"Patel","sequence":"additional","affiliation":[{"name":"Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health , London WC1N 1EH ,","place":["UK"]},{"name":"Neurometabolic Unit, The National Hospital for Neurology and Neurosurgery , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon A S","family":"Pope","sequence":"additional","affiliation":[{"name":"Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health , London WC1N 1EH ,","place":["UK"]},{"name":"Neurometabolic Unit, The National Hospital for Neurology and Neurosurgery , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon J R","family":"Heales","sequence":"additional","affiliation":[{"name":"Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health , London WC1N 1EH ,","place":["UK"]},{"name":"Neurometabolic Unit, The National Hospital for Neurology and Neurosurgery , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dania B H","family":"Hammadi","sequence":"additional","affiliation":[{"name":"Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University , Newcastle upon Tyne NE1 7RU ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte L","family":"Alston","sequence":"additional","affiliation":[{"name":"Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University , Newcastle upon Tyne NE1 7RU ,","place":["UK"]},{"name":"NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle upon Tyne Hospitals NHS Foundation Trust , Newcastle upon Tyne NE1 4LP ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert W","family":"Taylor","sequence":"additional","affiliation":[{"name":"Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University , Newcastle upon Tyne NE1 7RU ,","place":["UK"]},{"name":"NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle upon Tyne Hospitals NHS Foundation Trust , Newcastle upon Tyne NE1 4LP ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanns","family":"Lochmuller","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute, University of Ottawa , Ottawa ON K1H 8L1 ,","place":["Canada"]},{"name":"Division of Neurology, Department of Medicine, The Ottawa Hospital , Ottawa ON K1Y 4E9 ,","place":["Canada"]},{"name":"Department of Neuropediatrics and Muscle Disorders, Medical Center\u2014University of Freiburg, Faculty of Medicine , Freiburg 79106 ,","place":["Germany"]},{"name":"Centro Nacional de An\u00e1lisis Gen\u00f3mico (CNAG), Barcelona Institute of Science and Technology (BIST) , Barcelona 08003 ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cathy E","family":"Woodward","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub , London WC1N 3BH ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robyn","family":"Labrum","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub , London WC1N 3BH ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9508-0477","authenticated-orcid":false,"given":"Jana","family":"Vandrovcova","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2866-7777","authenticated-orcid":false,"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Efstathia","family":"Chronopoulou","sequence":"additional","affiliation":[{"name":"Department of Inherited Metabolic Disease, Division of Women's and Children's Services, University Hospitals Bristol NHS Foundation Trust , Bristol BS1 3NU ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Germaine","family":"Pierre","sequence":"additional","affiliation":[{"name":"Department of Inherited Metabolic Disease, Division of Women's and Children's Services, University Hospitals Bristol NHS Foundation Trust , Bristol BS1 3NU ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6763-1542","authenticated-orcid":false,"given":"Reza","family":"Maroofian","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael G","family":"Hanna","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology , London WC1N 3BG ,","place":["UK"]},{"name":"NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan-Willem","family":"Taanman","sequence":"additional","affiliation":[{"name":"Department of Clinical and Movement Neurosciences, University College London Queen Square Institute of Neurology , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8020-4884","authenticated-orcid":false,"given":"Semra","family":"Hiz","sequence":"additional","affiliation":[{"name":"Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus , Izmir 35340 ,","place":["Turkey"]},{"name":"Department of Pediatric Neurology, Faculty of Medicine, Dokuz Eyl\u00fcl University , Izmir 35340 ,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yavuz","family":"Oktay","sequence":"additional","affiliation":[{"name":"Department of Medical Biology, Faculty of Medicine, Dokuz Eyl\u00fcl University , Izmir 35340 ,","place":["Turkey"]},{"name":"Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus , Izmir 35340 ,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha S","family":"Zaki","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre , Cairo 12311 ,","place":["Egypt"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9841-170X","authenticated-orcid":false,"given":"Rita","family":"Horvath","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, University of Cambridge , Cambridge CB2 3EB ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julien","family":"Prudent","sequence":"additional","affiliation":[{"name":"Medical Research Council Mitochondrial Biology Unit, University of Cambridge , Cambridge CB2 0XY ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6123-4551","authenticated-orcid":false,"given":"Robert D S","family":"Pitceathly","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology , London WC1N 3BG ,","place":["UK"]},{"name":"NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,8,30]]},"reference":[{"key":"2025020305055914900_awae268-B1","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1002\/ana.24362","article-title":"Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial 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