دورية أكاديمية
أعرض في EDS

Further delineation of the phenotypic and metabolomic profile of ALDH1L2-related neurodevelopmental disorder.

التفاصيل البيبلوغرافية
العنوان: Further delineation of the phenotypic and metabolomic profile of ALDH1L2-related neurodevelopmental disorder.
المؤلفون: You M; UNC Nutrition Research Institute, Kannapolis, North Carolina, USA., Shamseldin HE; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center (KFSHRC), Riyadh, Saudi Arabia., Fogle HM; UNC Nutrition Research Institute, Kannapolis, North Carolina, USA.; Department of Nutrition, University of North Carolina, Chapel Hill, North Carolina, USA., Rushing BR; UNC Nutrition Research Institute, Kannapolis, North Carolina, USA.; Department of Nutrition, University of North Carolina, Chapel Hill, North Carolina, USA., AlMalki RH; Metabolomics Section, Department of Clinical Genomics, Center for Genome Medicine, King Faisal Specialist Hospital and Research Center (KFSHRC), Riyadh, Saudi Arabia., Jaafar A; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center (KFSHRC), Riyadh, Saudi Arabia., Hashem M; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center (KFSHRC), Riyadh, Saudi Arabia., Abdulwahab F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center (KFSHRC), Riyadh, Saudi Arabia., Abdel Rahman AM; Metabolomics Section, Department of Clinical Genomics, Center for Genome Medicine, King Faisal Specialist Hospital and Research Center (KFSHRC), Riyadh, Saudi Arabia.; Department of Biochemistry and Molecular Medicine, College of Medicine, Al Faisal University, Riyadh, Saudi Arabia., Krupenko NI; UNC Nutrition Research Institute, Kannapolis, North Carolina, USA.; Department of Nutrition, University of North Carolina, Chapel Hill, North Carolina, USA., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center (KFSHRC), Riyadh, Saudi Arabia., Krupenko SA; UNC Nutrition Research Institute, Kannapolis, North Carolina, USA.; Department of Nutrition, University of North Carolina, Chapel Hill, North Carolina, USA.
المصدر: Clinical genetics [Clin Genet] 2024 May; Vol. 105 (5), pp. 488-498. Date of Electronic Publication: 2024 Jan 09.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural
اللغة: English
بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Copenhagen, Munksgaard.
مواضيع طبية MeSH: Oxidoreductases Acting on CH-NH Group Donors*/genetics , Oxidoreductases Acting on CH-NH Group Donors*/metabolism, Humans ; Adenosine Triphosphate ; NADP/genetics ; Phenotype
مستخلص: ALDH1L2, a mitochondrial enzyme in folate metabolism, converts 10-formyl-THF (10-formyltetrahydrofolate) to THF (tetrahydrofolate) and CO 2 . At the cellular level, deficiency of this NADP + -dependent reaction results in marked reduction in NADPH/NADP + ratio and reduced mitochondrial ATP. Thus far, a single patient with biallelic ALDH1L2 variants and the phenotype of a neurodevelopmental disorder has been reported. Here, we describe another patient with a neurodevelopmental disorder associated with a novel homozygous missense variant in ALDH1L2, Pro133His. The variant caused marked reduction in the ALDH1L2 enzyme activity in skin fibroblasts derived from the patient as probed by 10-FDDF, a stable synthetic analog of 10-formyl-THF. Additional associated abnormalities in these fibroblasts include reduced NADPH/NADP + ratio and pool of mitochondrial ATP, upregulated autophagy and dramatically altered metabolomic profile. Overall, our study further supports a link between ALDH1L2 deficiency and abnormal neurodevelopment in humans.
(© 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
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معلومات مُعتمدة: P30 CA016086 United States CA NCI NIH HHS; R01 DK117854 United States DK NIDDK NIH HHS; R01 DK117854 United States NH NIH HHS
فهرسة مساهمة: Keywords: ALDH1L2; folate metabolism; metabolomics; missense mutation; neurodevelopmental disorder
المشرفين على المادة: 8L70Q75FXE (Adenosine Triphosphate)
53-59-8 (NADP)
EC 1.5.- (Oxidoreductases Acting on CH-NH Group Donors)
EC 1.5.1.6 (formyltetrahydrofolate dehydrogenase)
تواريخ الأحداث: Date Created: 20240109 Date Completed: 20240405 Latest Revision: 20240607
رمز التحديث: 20240607
مُعرف محوري في PubMed: PMC10990829
DOI: 10.1111/cge.14479
PMID: 38193334
قاعدة البيانات: MEDLINE
الوصف
تدمد:1399-0004
DOI:10.1111/cge.14479