Retinoic acid deficiency during gastrulation induces craniofacial malformations in mouse resembling fetal alcohol syndrome
| dc.contributor.author | Petrelli, Berardino | |
| dc.contributor.examiningcommittee | Chudley, Albert E. (Pediatrics & Child Health) Ding, Hao (Biochemistry and Medical Genetics) Anderson, Chris M. (Pharmacology and Therapeutics) | en_US |
| dc.contributor.supervisor | Hicks, Geoffrey G. (Biochemistry and Medical Genetics) | en_US |
| dc.date.accessioned | 2018-01-19T14:27:08Z | |
| dc.date.available | 2018-01-19T14:27:08Z | |
| dc.date.issued | 2017 | |
| dc.degree.discipline | Biochemistry and Medical Genetics | en_US |
| dc.degree.level | Master of Science (M.Sc.) | en_US |
| dc.description.abstract | Fetal Alcohol Spectrum Disorder is caused by maternal consumption of alcohol during pregnancy, and the clinical term given to children with birth defects, behavioral difficulties, and cognitive impairments. It can be associated with other co-morbidities which include heart defects, malocclusions, hearing loss, and immune deficiencies. Vitamin A Deficiency (retinoic acid deficiency) is caused by maternal deficiency of Vitamin A (retinol) (and consequently its active metabolite retinoic acid), and is the clinical term given to babies/children who present with (night) blindness, craniofacial malformations, brain aberrations and many of the FASD co-morbidities like heart defects, malocclusions, and immune deficiencies to name a few. The linking of these two streams of research lies in the family of enzymes both pathways share to convert their respective metabolites: ethanol to acetic acid and Vitamin A (retinol) to retinoic acid. The Vitamin A hypothesis suggests that during a binge exposure of alcohol the family of enzymes required to convert retinol to retinoic acid instead converts ethanol to acetic acid, causing the craniofacial malformations, brain aberrations, and co-morbidities present in both disorders. This paper will present a genetically modified mouse that biochemically mimics retinoic acid deficiency producing the craniofacial malformations and brain aberrations comparable to those found in PAE mouse models and clinical FASD outcomes. | en_US |
| dc.description.note | February 2018 | en_US |
| dc.identifier.uri | http://hdl.handle.net/1993/32860 | |
| dc.language.iso | eng | en_US |
| dc.rights | open access | en_US |
| dc.subject | Retinoic acid | en_US |
| dc.subject | Fetal alcohol spectrum disorder | en_US |
| dc.subject | Craniofacial malformations | en_US |
| dc.subject | FASD | en_US |
| dc.subject | Vitamin A deficiency | en_US |
| dc.title | Retinoic acid deficiency during gastrulation induces craniofacial malformations in mouse resembling fetal alcohol syndrome | en_US |
| dc.type | master thesis | en_US |