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)

Stem cell factor (SCF) promotes the growth of multilineage hematopoietic cells. SCF is a product of the steel (Sl) locus of the mouse, and it is a ligand for the c-kit proto-oncogene receptor. Previous studies have investigated the distribution of SCF mRNA in developing and adult tissues of the rat, including the brain. However, there have been conflicting reports on the distribution of SCF mRNA in adult rat brain. Specially noteworthy was one report of the absence of SCF mRNA in adult hippocampus, while another group reported the presence of that mRNA in the dentate gyrus of the hippocampus. We conducted this study to determine the precise localization of SCF mRNA in adult brain, and were especially interested in determining whether that mRNA is localized in adult hippocampus. We used in situ hybridization histochemistry to demonstrate that the gene encoding SCF is actively expressed in neuron-like cells in various regions of adult rat brain. Our data show that SCF mRNA is present in neuron-like cells in the thalamus, cerebral cortex, cerebellum, and hippocampus, particularly in the dentate gyrus, but also in CA1, CA2, and CA3. We did not localize SCF mRNA in glia-like cells. Dyskeratosis congenita is a severe human disorder, associated with dyskeratosis, anemia, and mental retardation. It has been postulated that dyskeratosis congenita is due to a deficiency in SCF function. It is unknown why patients with dyskeratosis congenita suffer from mental retardation.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Localization of stem cell factor mRNA in adult rat hippocampus. 748 32

Dac is a novel nuclear factor in mouse and humans that shares homology with Drosophila dachshund (dac). Alignment with available sequences defines a conserved box of 117 amino acids that shares weak homology with the proto-oncogene Ski and Sno. Dac expression is found in various neuroectodermal and mesenchymal tissues. At early developmental stages Dac is expressed in lateral mesoderm and in neural crest cells. In the neural plate/tube Dac expression is initially seen in the prosencephalon and gets gradually restricted to the presumptive neocortex and the distal portion of the outgrowing optic vesicle. Furthermore, Dac transcripts are detected in the mesenchyme underlying the Apical Ectodermal Ridge (AER) of the extending limb bud, the dorsal root ganglia and chain ganglia, and the mesenchyme of the growing genitalia. Dac expression in the Gli 3 mutant extra toes (Xt/Xt) shows little difference compared to the expression in wild-type limb buds. In contrast, a significant expansion of Dac expression are observed in the anterior mesenchyme of the limb buds of hemimelic extra toes (Hx/+) mice. FISH analysis reveals that human DAC maps to chromosome 13q22.3-23 and further fine-mapping defined a position of the DAC gene at 54cM or 13q21.1, a locus that associates with mental retardation and skeletal abnormalities.
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PMID:Mouse Dac, a novel nuclear factor with homology to Drosophila dachshund shows a dynamic expression in the neural crest, the eye, the neocortex, and the limb bud. 991 77

Hirschsprung's disease occurs rarely and sporadically in adult, involving males. In cases, which are manifested perinatally, the so called Hirschsprung-associated congenital anomalies (mainly central nervous system, urogenital and cardiovascular) may present (2-21%), which have not observed in adult. Mental retardation and Hirschsprung's disease more frequently are associated with Down syndrome (5-10%). The discoveries of molecular genetics in the last 4-5-years through the examination of transgenic ("knockout") mice, proved the basic role the mutation of 4 genes: the RET (receptor tyrosin kinase), a proto-oncogene, coding its ligand, the glial cell-line derived neutrophic factor (GDNF), the gene of the endothelin-B receptor (ENDRB) and the gene one of its ligand, the endothelin-3 (EDN3), in the pathogenesis of Hirschsprung's disease. In our case, the short segment Hirschsprung's disease caused respiratory and cardiac failure, which was recognized by autopsy. Besides, the severe mental retardation, the role of the long term use of antipsychotic medicines comes up in the prolongation and masking of the symptoms. The accompanied mental retardation and microcephalia in early childhood are known, which are associated anomalies with Hirschsprung's disease. In cases of Hirschsprung diseases at adults, no other associated congenital anomalies has been published. The mental retardation in Down-syndrome, in association with Hirschsprung's disease (and presumable in our case, too) is supposed to be the consequence of the mutation in the gene of GDNF. In this case, we observed, that the so called short segment H-d was accompanied at a 33 years old men patient with mental retardation (who was originated from a gypsy ethnic minority), because of it the connection of the nurses and the patient was disturbed and the main symptom of the H-d (chronic obstipation) remained hidden. The mechanic ileus was going on behind the scenes, and in addition to the cardiac failure caused the death of the patient. Practical conclusion of the case is that, Hirschsprung's disease should be suspected in all adult patients, who had severe obstipation persisting since childhood, especially in males.
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PMID:[Adult Hirschsprung's disease with mental retardation and microcephaly]. 1096 5