دورية أكاديمية
أعرض في EDS

Analysis of alcohol-metabolizing enzymes genetic variants and RAR/RXR expression in patients diagnosed with fetal alcohol syndrome: a case-control study.

التفاصيل البيبلوغرافية
العنوان: Analysis of alcohol-metabolizing enzymes genetic variants and RAR/RXR expression in patients diagnosed with fetal alcohol syndrome: a case-control study.
المؤلفون: Vieiros M; Grup de Recerca Infància i Entorn (GRIE), Institut d'investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.; IdiPAZ - Instituto de Investigación Hospital Universitario La Paz, Madrid, Spain., Navarro-Tapia E; IdiPAZ - Instituto de Investigación Hospital Universitario La Paz, Madrid, Spain. enavarrot@universidadviu.com.; Faculty of Health Sciences, Valencian International University, Valencia, Spain. enavarrot@universidadviu.com., Ramos-Triguero A; Grup de Recerca Infància i Entorn (GRIE), Institut d'investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain., García-Meseguer À; Grup de Recerca Infància i Entorn (GRIE), Institut d'investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain., Martínez L; IdiPAZ - Instituto de Investigación Hospital Universitario La Paz, Madrid, Spain.; Department of Pediatric Surgery, Hospital Universitario La Paz, Madrid, Spain., García-Algar Ó; Grup de Recerca Infància i Entorn (GRIE), Institut d'investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.; Department of Neonatology, Hospital Clínic-Maternitat, ICGON, BCNatal, Barcelona, Spain., Andreu-Fernández V; Grup de Recerca Infància i Entorn (GRIE), Institut d'investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain. vandreu@universidadviu.com.; Biosanitary Research Institute, Valencian International University, Valencia, Spain. vandreu@universidadviu.com.
المصدر: BMC genomics [BMC Genomics] 2024 Jun 17; Vol. 25 (1), pp. 610. Date of Electronic Publication: 2024 Jun 17.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2164 (Electronic) Linking ISSN: 14712164 NLM ISO Abbreviation: BMC Genomics Subsets: MEDLINE
أسماء مطبوعة: Original Publication: London : BioMed Central, [2000-
مواضيع طبية MeSH: Fetal Alcohol Spectrum Disorders*/genetics , Fetal Alcohol Spectrum Disorders*/metabolism , Polymorphism, Single Nucleotide* , Alcohol Dehydrogenase*/genetics , Alcohol Dehydrogenase*/metabolism , Receptors, Retinoic Acid*/genetics , Receptors, Retinoic Acid*/metabolism, Humans ; Case-Control Studies ; Female ; Male ; Child ; Ethanol/metabolism ; Pregnancy ; Child, Preschool ; Alleles
مستخلص: Understanding the mechanisms underlying alcohol metabolism and its regulation, including the effect of polymorphisms in alcohol-metabolizing enzymes, is crucial for research on Fetal Alcohol Spectrum Disorders. The aim of this study was to identify specific single nucleotide polymorphisms in key alcohol-metabolizing enzymes in a cohort of 71 children, including children with fetal alcohol syndrome, children prenatally exposed to ethanol but without fetal alcohol spectrum disorder, and controls. We hypothesized that certain genetic variants related to alcohol metabolism may be fixed in these populations, giving them a particular alcohol metabolism profile. In addition, the difference in certain isoforms of these enzymes determines their affinity for alcohol, which also affects the metabolism of retinoic acid, which is key to the proper development of the central nervous system. Our results showed that children prenatally exposed to ethanol without fetal alcohol spectrum disorder traits had a higher frequency of the ADH1B*3 and ADH1C*1 alleles, which are associated with increased alcohol metabolism and therefore a protective factor against circulating alcohol in the fetus after maternal drinking, compared to FAS children who had an allele with a lower affinity for alcohol. This study also revealed the presence of an ADH4 variant in the FAS population that binds weakly to the teratogen, allowing increased circulation of the toxic agent and direct induction of developmental abnormalities in the fetus. However, both groups showed dysregulation in the expression of genes related to the retinoic acid pathway, such as retinoic acid receptor and retinoid X receptor, which are involved in the development, regeneration, and maintenance of the nervous system. These findings highlight the importance of understanding the interplay between alcohol metabolism, the retinoic acid pathway and genetic factors in the development of fetal alcohol syndrome.
(© 2024. The Author(s).)
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معلومات مُعتمدة: PI21/01415 Instituto de Salud Carlos III; PI21/01415 Instituto de Salud Carlos III; RD21/0012/0017 Red de Salud Materno Infantil y del Desarrollo; RD21/0012/0017 Red de Salud Materno Infantil y del Desarrollo
فهرسة مساهمة: Keywords: ADH; ALDH; Alcohol; Expression; FASD; Fetal alcohol syndrome; Polymorphisms; Retinoic acid; Retinoic acid receptor; Retinoid X receptor
المشرفين على المادة: EC 1.1.1.1 (Alcohol Dehydrogenase)
0 (Receptors, Retinoic Acid)
3K9958V90M (Ethanol)
EC 1.1.1.1 (ADH1B protein, human)
EC 1.1.1.1 (ADH1C protein, human)
EC 1.1.1.1 (alcohol dehydrogenase IV)
تواريخ الأحداث: Date Created: 20240617 Date Completed: 20240618 Latest Revision: 20240703
رمز التحديث: 20240703
مُعرف محوري في PubMed: PMC11184718
DOI: 10.1186/s12864-024-10516-7
PMID: 38886650
قاعدة البيانات: MEDLINE
الوصف
تدمد:1471-2164
DOI:10.1186/s12864-024-10516-7