دورية أكاديمية
أعرض في EDS

Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.

التفاصيل البيبلوغرافية
العنوان: Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.
المؤلفون: Pena IA; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario K1H 8L1, Canada ipena2@uottawa.ca.; Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ontario K1H 8L1, Canada.; Department of Biology, University of Ottawa, Ontario K1N 6N5, Canada., Roussel Y; Department of Biology, University of Ottawa, Ontario K1N 6N5, Canada., Daniel K; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario K1H 8L1, Canada., Mongeon K; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario K1H 8L1, Canada.; Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ontario K1H 8L1, Canada., Johnstone D; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario K1H 8L1, Canada.; Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ontario K1H 8L1, Canada., Weinschutz Mendes H; Department of Biology, University of Ottawa, Ontario K1N 6N5, Canada., Bosma M; Departments of Pediatrics and Clinical Genetics, Academic Medical Centre, 1105 AZ Amsterdam, The Netherlands., Saxena V; Department of Biology, University of Ottawa, Ontario K1N 6N5, Canada., Lepage N; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario K1H 8L1, Canada., Chakraborty P; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario K1H 8L1, Canada., Dyment DA; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario K1H 8L1, Canada.; Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ontario K1H 8L1, Canada., van Karnebeek CDM; Departments of Pediatrics and Clinical Genetics, Academic Medical Centre, 1105 AZ Amsterdam, The Netherlands.; Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver V5Z 4H4, British Columbia, Canada., Verhoeven-Duif N; Department of Genetics, Center for Molecular Medicine, University Medical Center (UMC), 3584 EA Utrecht, The Netherlands., Bui TV; Department of Biology, University of Ottawa, Ontario K1N 6N5, Canada., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario K1H 8L1, Canada ipena2@uottawa.ca.; Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ontario K1H 8L1, Canada., Ekker M; Department of Biology, University of Ottawa, Ontario K1N 6N5, Canada., MacKenzie A; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario K1H 8L1, Canada.; Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ontario K1H 8L1, Canada.
المصدر: Genetics [Genetics] 2017 Dec; Vol. 207 (4), pp. 1501-1518. Date of Electronic Publication: 2017 Oct 23.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0374636 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1943-2631 (Electronic) Linking ISSN: 00166731 NLM ISO Abbreviation: Genetics Subsets: MEDLINE
أسماء مطبوعة: Publication: 2021- : [Oxford] : Oxford University Press
Original Publication: Austin, Tex. [etc.]
مواضيع طبية MeSH: Aldehyde Dehydrogenase/*genetics , Epilepsy/*genetics , Lysine/*metabolism , Seizures/*genetics, Aldehyde Dehydrogenase/deficiency ; Animals ; Disease Models, Animal ; Epilepsy/metabolism ; Epilepsy/physiopathology ; Gene Knockout Techniques ; Humans ; Lysine/deficiency ; Mutation ; Pyridoxine/metabolism ; Seizures/metabolism ; Seizures/physiopathology ; Vitamin B 6/genetics ; Vitamin B 6/metabolism ; Zebrafish/genetics ; gamma-Aminobutyric Acid/genetics ; gamma-Aminobutyric Acid/metabolism
مستخلص: Pyridoxine-dependent epilepsy (PDE) is a rare disease characterized by mutations in the lysine degradation gene ALDH7A1 leading to recurrent neonatal seizures, which are uniquely alleviated by high doses of pyridoxine or pyridoxal 5'-phosphate (vitamin B6 vitamers). Despite treatment, neurodevelopmental disabilities are still observed in most PDE patients underlining the need for adjunct therapies. Over 60 years after the initial description of PDE, we report the first animal model for this disease: an aldh7a1-null zebrafish ( Danio rerio ) displaying deficient lysine metabolism and spontaneous and recurrent seizures in the larval stage (10 days postfertilization). Epileptiform electrographic activity was observed uniquely in mutants as a series of population bursts in tectal recordings. Remarkably, as is the case in human PDE, the seizures show an almost immediate sensitivity to pyridoxine and pyridoxal 5'-phosphate, with a resulting extension of the life span. Lysine supplementation aggravates the phenotype, inducing earlier seizure onset and death. By using mass spectrometry techniques, we further explored the metabolic effect of aldh7a1 knockout. Impaired lysine degradation with accumulation of PDE biomarkers, B6 deficiency, and low γ-aminobutyric acid levels were observed in the aldh7a1 -/- larvae, which may play a significant role in the seizure phenotype and PDE pathogenesis. This novel model provides valuable insights into PDE pathophysiology; further research may offer new opportunities for drug discovery to control seizure activity and improve neurodevelopmental outcomes for PDE.
(Copyright © 2017 by the Genetics Society of America.)
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معلومات مُعتمدة: Canada CIHR
فهرسة مساهمة: Keywords: aldh7a1; lysine metabolism; metabolic epilepsy; pyridoxine-dependent epilepsy; zebrafish model
المشرفين على المادة: 56-12-2 (gamma-Aminobutyric Acid)
8059-24-3 (Vitamin B 6)
EC 1.2.1.3 (ALDH7A1 protein, human)
EC 1.2.1.3 (Aldehyde Dehydrogenase)
K3Z4F929H6 (Lysine)
KV2JZ1BI6Z (Pyridoxine)
SCR Disease Name: Pyridoxine-dependent epilepsy
تواريخ الأحداث: Date Created: 20171025 Date Completed: 20180718 Latest Revision: 20240327
رمز التحديث: 20240327
مُعرف محوري في PubMed: PMC5714462
DOI: 10.1534/genetics.117.300137
PMID: 29061647
قاعدة البيانات: MEDLINE
الوصف
تدمد:1943-2631
DOI:10.1534/genetics.117.300137