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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
M. Wiessner, R. Maroofian, MY. Ni, A. Pedroni, JS. Müller, R. Stucka, C. Beetz, S. Efthymiou, FM. Santorelli, AA. Alfares, C. Zhu, A. Uhrova Meszarosova, E. Alehabib, S. Bakhtiari, AR. Janecke, MG. Otero, JYH. Chen, JT. Peterson, TM. Strom, P. De...
Jazyk angličtina Země Velká Británie
Typ dokumentu časopisecké články, Research Support, N.I.H., Extramural, práce podpořená grantem
Grantová podpora
Wellcome Trust - United Kingdom
MR/N025431/1
Medical Research Council - United Kingdom
R01 NS072248
NINDS NIH HHS - United States
NLK
Free Medical Journals
od 1996 do Před 1 rokem
Open Access Digital Library
od 1996-01-01
PubMed
33970200
DOI
10.1093/brain/awab041
Knihovny.cz E-zdroje
- MeSH
- dánio pruhované MeSH
- krysa rodu rattus MeSH
- lidé MeSH
- mutace MeSH
- myši MeSH
- oxygenasy genetika MeSH
- rodokmen MeSH
- spastická paraplegie dědičná genetika MeSH
- zvířata MeSH
- Check Tag
- krysa rodu rattus MeSH
- lidé MeSH
- mužské pohlaví MeSH
- myši MeSH
- ženské pohlaví MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated with biallelic HPDL variants. Phenotypes ranged from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spasticity and global developmental delays, sometimes complicated by episodes of neurological and respiratory decompensation. Variants included bona fide pathogenic truncating changes, although most were missense substitutions. Functionality of variants could not be determined directly as the enzymatic specificity of HPDL is unknown; however, when HPDL missense substitutions were introduced into 4-hydroxyphenylpyruvate dioxygenase (HPPD, an HPDL orthologue), they impaired the ability of HPPD to convert 4-hydroxyphenylpyruvate into homogentisate. Moreover, three additional sets of experiments provided evidence for a role of HPDL in the nervous system and further supported its link to neurological disease: (i) HPDL was expressed in the nervous system and expression increased during neural differentiation; (ii) knockdown of zebrafish hpdl led to abnormal motor behaviour, replicating aspects of the human disease; and (iii) HPDL localized to mitochondria, consistent with mitochondrial disease that is often associated with neurological manifestations. Our findings suggest that biallelic HPDL variants cause a syndrome varying from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spastic tetraplegia associated with global developmental delays.
Board of Governors Regenerative Medicine Institute Cedars Sinai Medical Center Los Angeles USA
Center for Medical Genetics Hanusch Hospital Vienna Austria
Center for the Undiagnosed Patient Cedars Sinai Medical Center Los Angeles USA
Center of Medical Genetics University of Antwerp and Antwerp University Hospital Antwerpen Belgium
Department of Biochemistry National Defense Medical Center Neihu Taipei Taiwan
Department of Clinical Neuroscience Karolinska Institutet Stockholm Sweden
Department of Clinical Neurosciences University of Cambridge Cambridge UK
Department of Genetics Washington University School of Medicine St Louis USA
Department of Genetics Yale University School of Medicine New Haven USA
Department of Human Genetics Radboud University Medical Center Nijmegen The Netherlands
Department of Medical Genetics Le Havre Hospital Le Havre France
Department of Medicine Nephrology University Hospital Freiburg Germany
Department of Neurology and Psychiatry Assiut University Hospital Assiut Egypt
Department of Neurology Cedars Sinai Medical Center Los Angeles USA
Department of Neurology Graduate School of Medical Sciences University of Yamanashi Yamanashi Japan
Department of Neurology Graduate School of Medicine The University of Tokyo Tokyo Japan
Department of Neuromuscular Disorders Institute of Neurology University College London London UK
Department of Neuroradiology CHRU Nancy Nancy France
Department of Neuroscience Karolinska Institutet Stockholm Sweden
Department of Orthopaedics and Traumatology Medical University of Vienna Vienna Austria
Department of Paediatric Neurology Liberec Hospital Liberec Czech Republic
Department of Pediatric Neurology Akdeniz University Hospital Antalya Turkey
Department of Pediatric Neurology Izmir Katip Celebi University Izmir Turkey
Department of Pediatric Neurology Osaka Women's and Children's Hospital Osaka Japan
Department of Pediatric Neurology University Children's Hospital Tübingen Tübingen Germany
Department of Pediatrics 1 Medical University of Innsbruck Innsbruck Austria
Department of Pediatrics Cedars Sinai Medical Center Los Angeles USA
Department of Pediatrics College of Medicine Qassim University Qassim Saudi Arabia
Department of Pediatrics Genetic Unit Armed Forces Hospital Khamis Mushayt Saudi Arabia
Department of Pediatrics Medical Genetics Cedars Sinai Medical Center Los Angeles USA
Department of Pediatrics Naval Medical Center San Diego San Diego USA
Department of Pediatrics Perelman School of Medicine University of Pennsylvania Philadelphia USA
Department of Women's and Children's Health Karolinska Institutet Stockholm Sweden
Division of Human Genetics Medical University of Innsbruck Innsbruck Austria
Friedrich Baur Institute Department of Neurology LMU Munich Munich Germany
Genetics and Genomics of Rare Diseases Unit IRCCS Istituto Giannina Gaslini Genoa Italy
Genetics Research Center University of Social Welfare and Rehabilitation Sciences Tehran Iran
genetikum Center for Human Genetics Neu Ulm Germany
German Center for Neurodegenerative Diseases University of Tübingen Tübingen Germany
Hasti Genetic Counseling Center of Welfare Organization of Southern Khorasan Birjand Iran
Institut für Pharmazeutische Wissenschaften Albert Ludwigs Universität Freiburg Freibug Germany
Institute of Human Genetics Technische Universität Mänchen Munich Germany
Institute of Medical Genetics and Applied Genomics University of Tübingen Tübingen Germany
Institute of Medical Genomics International University of Health and Welfare Chiba Japan
Laboratory of Neuromuscular Pathology Institute Born Bunge University of Antwerp Antwerpen Belgium
Medical Genetics Unit IRCCS Istituto Giannina Gaslini Genoa Italy
Medical School Sigmund Freud Private University Vienna Austria
Medizinische Genetik Mainz Limbach Genetics Mainz Germany
Mitochondrial Medicine Frontier Program Children's Hospital of Philadelphia Philadelphia USA
Molecular Medicine Unit IRCCS Fondazione Stella Maris Pisa Italy
Neurology Department Massachusetts General Hospital Boston USA
Neuromuscular Reference Centre Department of Neurology Antwerp University Hospital Antwerpen Belgium
Neuroscience Research Center Faculty of Medicine Golestan University of Medical Sciences Gorgan Iran
NIHR Oxford BRC Wellcome Centre for Human Genetics University of Oxford Oxford UK
Oxford Regional Clinical Genetics Service Northampton General Hospital Northampton UK
Pediatric Neurology and Neuromuscular Diseases Unit IRCCS Istituto Giannina Gaslini Genoa Italy
Polikliniek Neurologie Enschede Medisch Spectrum Twente Enschede The Netherlands
Rare Diseases Unit IRCCS Istituto Giannina Gaslini Genoa Italy
The National Hospital for Neurology and Neurosurgery London UK
Yale Center for Genome Analysis Yale University New Haven USA
Citace poskytuje Crossref.org
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- $a Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia / $c M. Wiessner, R. Maroofian, MY. Ni, A. Pedroni, JS. Müller, R. Stucka, C. Beetz, S. Efthymiou, FM. Santorelli, AA. Alfares, C. Zhu, A. Uhrova Meszarosova, E. Alehabib, S. Bakhtiari, AR. Janecke, MG. Otero, JYH. Chen, JT. Peterson, TM. Strom, P. De Jonghe, T. Deconinck, W. De Ridder, J. De Winter, R. Pasquariello, I. Ricca, M. Alfadhel, BP. van de Warrenburg, R. Portier, C. Bergmann, S. Ghasemi Firouzabadi, SC. Jin, K. Bilguvar, S. Hamed, M. Abdelhameed, NA. Haridy, S. Maqbool, F. Rahman, N. Anwar, J. Carmichael, A. Pagnamenta, NW. Wood, F. Tran Mau-Them, T. Haack, Genomics England Research Consortium, PREPARE network, M. Di Rocco, I. Ceccherini, M. Iacomino, F. Zara, V. Salpietro, M. Scala, M. Rusmini, Y. Xu, Y. Wang, Y. Suzuki, K. Koh, H. Nan, H. Ishiura, S. Tsuji, L. Lambert, E. Schmitt, E. Lacaze, H. Küpper, D. Dredge, C. Skraban, A. Goldstein, MJH. Willis, K. Grand, JM. Graham, RA. Lewis, F. Millan, Ö. Duman, N. Dündar, G. Uyanik, L. Schöls, P. Nürnberg, G. Nürnberg, A. Catala Bordes, P. Seeman, M. Kuchar, H. Darvish, A. Rebelo, F. Bouçanova, JJ. Medard, R. Chrast, M. Auer-Grumbach, FS. Alkuraya, H. Shamseldin, S. Al Tala, J. Rezazadeh Varaghchi, M. Najafi, S. Deschner, D. Gläser, W. Hüttel, MC. Kruer, EJ. Kamsteeg, Y. Takiyama, S. Züchner, J. Baets, M. Synofzik, R. Schüle, R. Horvath, H. Houlden, L. Bartesaghi, HJ. Lee, K. Ampatzis, TM. Pierson, J. Senderek
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- $a Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated with biallelic HPDL variants. Phenotypes ranged from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spasticity and global developmental delays, sometimes complicated by episodes of neurological and respiratory decompensation. Variants included bona fide pathogenic truncating changes, although most were missense substitutions. Functionality of variants could not be determined directly as the enzymatic specificity of HPDL is unknown; however, when HPDL missense substitutions were introduced into 4-hydroxyphenylpyruvate dioxygenase (HPPD, an HPDL orthologue), they impaired the ability of HPPD to convert 4-hydroxyphenylpyruvate into homogentisate. Moreover, three additional sets of experiments provided evidence for a role of HPDL in the nervous system and further supported its link to neurological disease: (i) HPDL was expressed in the nervous system and expression increased during neural differentiation; (ii) knockdown of zebrafish hpdl led to abnormal motor behaviour, replicating aspects of the human disease; and (iii) HPDL localized to mitochondria, consistent with mitochondrial disease that is often associated with neurological manifestations. Our findings suggest that biallelic HPDL variants cause a syndrome varying from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spastic tetraplegia associated with global developmental delays.
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