Chemical teratogenesis in humans: Biochemical and molecular mechanisms

Juchau, Mont R.

doi:10.1007/978-3-0348-8863-9_2

Cited by 6 publications

(5 citation statements)

References 83 publications

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“…Such effects are commonly referred to as fetal alcohol effects (FAE) or, for more severe cases, fetal alcohol syndrome (FAS). These are the most common of human birth defects known to be caused by chemicals and represent a major morbidity problem (Ikonomidou et al, 2000;Juchau, 1997;Rogers and Kavlock, 1996;Shepard, 1998). Conversion of ethanol to observable quantities of AcHO within prenatal cephalic tissues or cells conceivably could result in significant damage to cells of the developing brain, with resultant longterm compromise of important mental, neurobehavioral, and neuromotor functions.…”

mentioning

confidence: 99%

Enzymic Catalysis of the Accumulation of Acetaldehyde From Ethanol in Human Prenatal Cephalic Tissues: Evaluation of the Relative Contributions of CYP2E1, Alcohol Dehydrogenase, and Catalase/Peroxidases

Person

Chen

Fantel

et al. 2000

Alcoholism Clin & Exp Res

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mentioning

confidence: 99%

Enzymic Catalysis of the Accumulation of Acetaldehyde From Ethanol in Human Prenatal Cephalic Tissues: Evaluation of the Relative Contributions of CYP2E1, Alcohol Dehydrogenase, and Catalase/Peroxidases

Person

Chen

Fantel

et al. 2000

Alcoholism Clin & Exp Res

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“…In addition, blood folate concentrations have been found to be lower in women with epilepsy who have abnormal pregnancy outcomes [42]. Folate treatment has been reported to reduce malformation rates in mice exposed in utero to phenytoin [43], but these results have been challenged [44].…”

Section: Folate Mechanismsmentioning

confidence: 98%

Neurodevelopmental effects of antiepileptic drugs

Meador

2002

Curr Neurol Neurosci Rep

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Although the vast majority of children born to women with epilepsy are normal, these children are at increased risk for both anatomic and cognitive impairments. Current evidence suggests that the defects are the result of in utero antiepileptic drug (AED) exposure combined with a genetic predispositon. However, the exact mechanisms underlying these effects remain to be delineated. AED polytherapy increases the risk, but it remains uncertain if specific AEDs pose an overall greater threat. Most women with epilepsy cannot avoid AEDs during pregnancy because of the greater risks posed by seizures to the mother and fetus. Therefore, current recommendations emphasize definitive diagnosis and the use of AED monotherapy at the lowest effective dose if treatment is indicated. Prenatal folate and multivitamins should also be given routinely to women of childbearing age who require AED therapy.

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“…Morphogenesis is a highly regulated process, there are critical moments during development where different organs can be particularly sensitive to insults [76]. ALDH2 genotype has been proposed to be a phenotype modifier in FA, the A allele has been found to be associated to early bone marrow failure progression as well as an extensive malformation phenotype [79].…”

Section: Development Alterationsmentioning

confidence: 99%

Chromosome Instability in Fanconi Anemia: From Breaks to Phenotypic Consequences

García-de-Teresa

Rodríguez

Frı́as

2020

Preprint

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Fanconi anemia (FA), a chromosomal instability syndrome, is caused by inherited pathogenic variants in any of 22 FANC genes, that cooperate in the FA/BRCA pathway. This pathway regulates the repair of DNA interstrand crosslinks (ICLs) through homologous recombination. In FA proper repair of ICLs is impaired, and accumulation of toxic DNA double strand breaks occurs. In order to repair this type of DNA damage, FA cells activate alternative error-prone DNA repair pathways, that may lead to the formation of gross structural chromosome aberrations of which radial figures are the hallmark of FA and their segregation during cell division are the origin of subsequent aberrations like translocations, dicentrics and acentric fragments. The deficiency in DNA repair has pleiotropic consequences in the phenotype of patients with FA, including developmental alterations, bone marrow failure and an extreme risk to develop cancer. The mechanisms leading to the physical abnormalities during embryonic development have not been clearly elucidated, however FA has features of premature aging with chronic inflammation mediated by pro-inflammatory cytokines, that results in tissue attrition, selection of malignant clones and cancer onset. Moreover, the effect of the FA/BRCA pathway in germinal cells, evidenced by infertility in patients with FA attests of chromosomal instability and cell death also occurring in the germinal compartment.

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Chemical teratogenesis in humans: Biochemical and molecular mechanisms

Cited by 6 publications

References 83 publications

Enzymic Catalysis of the Accumulation of Acetaldehyde From Ethanol in Human Prenatal Cephalic Tissues: Evaluation of the Relative Contributions of CYP2E1, Alcohol Dehydrogenase, and Catalase/Peroxidases

Enzymic Catalysis of the Accumulation of Acetaldehyde From Ethanol in Human Prenatal Cephalic Tissues: Evaluation of the Relative Contributions of CYP2E1, Alcohol Dehydrogenase, and Catalase/Peroxidases

Neurodevelopmental effects of antiepileptic drugs

Chromosome Instability in Fanconi Anemia: From Breaks to Phenotypic Consequences

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