Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fetal alcohol syndrome (FAS) is a collection of signs and symptoms seen in some children exposed to alcohol in the prenatal period. It is characterized mainly by physical and mental retardation, craniofacial anomalies and minor joint abnormalities. However, with the increasing incidence of FAS, there is a great variation in the clinical features of FAS. This article describes in detail these clinical features. Due to ethical reasons it is not possible to perform experiments on pregnant women. Hence to study the effects of alcohol, various animal and avian experimental models have been chosen. The various experimental findings and human correlation are described. The exact mechanism by which alcohol induces its teratogenic effects is not known. The possible mechanisms are discussed. Measures to prevent the occurrence of FAS have been suggested.
Med Sci Monit
PMID:Alcohol and the developing fetus--a review. 1120 51

Mental retardation is a serious medical and social problem. The prevalence of mental retardation in Western countries is estimated to be between 2 and 3%. Establishing the cause of mental retardation is essential for prognosis, management, and genetic counseling. It is estimated that 25-35% of mental retardation might have a genetic background. Of these genetic causes, 25-30% are probably due to mutations on the X chromosome (X-linked mental retardation, XLMR). XLMR is a heterogeneous set of conditions involved in a large proportion of inherited mental retardation. More than 200 XLMR conditions have been reported and 76 genes has been linked to them. XLMR conditions are commonly subdivided into syndromic and nonsyndromic forms on the basis of clinical presentation. The distinction between these forms of XLMR is gradually becoming less clear as phenotypes are described for several of the genes. The spectrum of phenotypic variability in XLMR is so large that mutations in several XLMR genes have been found in both syndromic and nonsyndromic (XLMR) pedigrees. About 42% of patients from families with an XLMR history might have mutations in one of the known genes implicated in XLMR. However, in genetic counseling we have to use empiric recurrence risk.
Med Sci Monit 2008 Nov
PMID:X-linked mental retardation. 1897 87

Rett syndrome (RTT) is a postnatal, severe, disabling neurodevelopmental disorder occurring almost exclusively in females and is the second most common cause for genetic mental retardation in girls. In the majority of cases it is caused by mutations in gene (MECP2) encoding methyl-CpG-binding protein 2. Brain-derived neurotrophic factor (BDNF) is a neurotrophic factor playing a major role in neuronal survival, neurogenesis and plasticity. Animal studies suggested that abnormalities in BDNF homeostasis may contribute to the pathogenesis in Mecp2 null mice, and BDNF administration in the Mecp2 mutant brain led to later onset/slower disease progression, suggesting that increased BDNF in the brain could be therapeutic for this disease. Mature BDNF is a 14 kDa protein that may have poor blood-brain barrier penetrability. However, recent animal studies demonstrated that peripheral administration of BDNF, either by intravenous injection or intranasal delivery, could increase BDNF levels in the brain. Thus it is proposed that peripheral administration of BDNF in the early stage could have therapeutic potential for RTT subjects. Furthermore, the combination use of mannitol may temporarily open the blood-brain barrier and facilitate the entry of BDNF into brain. The potential therapeutic effect of peripheral BDNF administration could be tested in RTT animal models such as Mecp2 KO mice, which may provide a new intervention for this devastating disease.
Med Sci Monit 2012 Aug
PMID:Peripheral administration of brain-derived neurotrophic factor to Rett syndrome animal model: a possible approach for the treatment of Rett syndrome. 2284 7