دورية أكاديمية
A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency.
| العنوان: | A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency. |
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| المؤلفون: | Lines MA; Medical Genetics, Department of Pediatrics, Alberta Children's Hospital, Calgary, AB, Canada.; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Cuillerier A; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada., Chakraborty P; Metabolics and Newborn Screening, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada.; Newborn Screening Ontario, Ottawa, ON, Canada., Naas T; Newborn Screening Ontario, Ottawa, ON, Canada., Duque Lasio ML; Division of Genetics & Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA., Michaud J; Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, ON, Canada., Pileggi C; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada., Harper ME; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada., Burelle Y; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada.; Interdisciplinary School of Health Sciences, Faculty of Health Sciences, University of Ottawa, Ottawa, ON, Canada., Toler TL; Division of Genetics & Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA., Sondheimer N; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Program in Genetics and Genome Biology Program, Sick Kids Research Institute, Toronto, ON, Canada.; Departments of Pediatrics and Molecular Genetics, University of Toronto, Toronto, ON, Canada., Crawford HP; Innovative Genetics Care, The Woodlands, TX, USA., Millan F; GeneDx, Gaithersburg, MD, USA., Geraghty MT; Metabolics and Newborn Screening, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada. mgeraghty@cheo.on.ca.; Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada. mgeraghty@cheo.on.ca. |
| المصدر: | European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Nov; Vol. 29 (11), pp. 1719-1724. Date of Electronic Publication: 2021 Sep 06. |
| نوع المنشور: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: <2003->: London : Nature Publishing Group Original Publication: Basel ; New York : Karger, [1992- |
| مواضيع طبية MeSH: | Mitochondrial Diseases/*genetics , Mitochondrial Proton-Translocating ATPases/*metabolism, Catalytic Domain ; Cells, Cultured ; Child, Preschool ; Female ; Fibroblasts/metabolism ; Humans ; Infant ; Male ; Mitochondrial Diseases/metabolism ; Mitochondrial Diseases/pathology ; Mitochondrial Proton-Translocating ATPases/chemistry ; Mitochondrial Proton-Translocating ATPases/genetics ; Mutation ; Phenotype |
| مستخلص: | Mitochondrial disorders are a heterogeneous group of rare, degenerative multisystem disorders affecting the cell's core bioenergetic and signalling functions. Spontaneous improvement is rare. We describe a novel neonatal-onset mitochondriopathy in three infants with failure to thrive, hyperlactatemia, hyperammonemia, and apparent clinical resolution before 18 months. Exome sequencing showed all three probands to be identically heterozygous for a recurrent de novo substitution, c.620G>A [p.(Arg207His)] in ATP5F1A, encoding the α-subunit of complex V. Patient-derived fibroblasts exhibited multiple deficits in complex V function and expression in vitro. Structural modelling predicts the observed substitution to create an abnormal region of negative charge on ATP5F1A's β-subunit-interacting surface, adjacent to the nearby β subunit's active site. This disorder, which presents with life-threatening neonatal manifestations, appears to follow a remitting course; the long-term prognosis remains unknown. (© 2021. The Author(s), under exclusive licence to European Society of Human Genetics.) |
| التعليقات: | Comment in: Eur J Hum Genet. 2021 Nov;29(11):1593-1594. (PMID: 34531511) |
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| المشرفين على المادة: | EC 3.6.1.14 (ATP5F1A protein, human) EC 3.6.3.- (Mitochondrial Proton-Translocating ATPases) |
| تواريخ الأحداث: | Date Created: 20210906 Date Completed: 20220322 Latest Revision: 20221102 |
| رمز التحديث: | 20231215 |
| مُعرف محوري في PubMed: | PMC8560863 |
| DOI: | 10.1038/s41431-021-00956-0 |
| PMID: | 34483339 |
| قاعدة البيانات: | MEDLINE |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 1476-5438 |
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| DOI: | 10.1038/s41431-021-00956-0 |