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)

An association between personality disorder (PD) pathology, including symptoms of all PD types and Axis I disorders, and suicidal behaviour was studied in a series of 90 non-schizophrenic, non-bipolar in-patients of both sexes without mental retardation or organic brain syndrome. All of these patients, who scored positively on the SCID-II-PQ, were interviewed with the PDE and SCID-P, and with the Structured interview for the study of childhood trauma provided with supplementary items reflecting suicidal behaviour. Mood disorders were found to be significantly correlated with cluster C pathology (PD pathology always being expressed by dimensional PDE scores) and eating disorders were significantly correlated with cluster B pathology in women. Psychoactive substance use disorders were mainly correlated with cluster B pathology and anxiety disorders with cluster C pathology in both sexes. Suicidal behaviour was correlated with PD pathology of all clusters in women, but not in men. In women a strong correlation was found between suicidal behaviour and history of childhood trauma, especially sexual abuse. The results of this study indicate that there is some specificity with regard to the Axis I/Axis II association, more so in relation to PD clusters than in relation to the individual PD types. However, the relationships between PD pathology and Axis I disorders and suicidal behaviour are complex, and they differ between the sexes.
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PMID:Possible correlates of DSM-III-R personality disorders. 942 38

Among the human diseases that result from chromosomal aberrations, a de novo deletion in chromosome 11p13 is clinically associated with a syndrome characterized by Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR). Not all genes in the deleted region have been characterized biochemically or functionally. We have recently identified the first Class III cyclic nucleotide phosphodiesterase, Rv0805, from Mycobacterium tuberculosis, which biochemically and structurally belongs to the superfamily of metallophosphoesterases. We performed a large scale bioinformatic analysis to identify orthologs of the Rv0805 protein and identified many eukaryotic genes that included the human 239FB gene present in the region deleted in the WAGR syndrome. We report here the first detailed biochemical characterization of the rat 239FB protein and show that it possesses metallophosphodiesterase activity. Extensive mutational analysis identified residues that are involved in metal interaction at the binuclear metal center. Generation of a rat 239FB protein with a mutation corresponding to a single nucleotide polymorphism seen in human 239FB led to complete inactivation of the protein. A close ortholog of 239FB is found in adult tissues, and biochemical characterization of the 239AB protein demonstrated significant hydrolytic activity against 2',3'-cAMP, thus representing the first evidence for a Class III cyclic nucleotide phosphodiesterase in mammals. Highly conserved orthologs of the 239FB protein are found in Caenorhabditis elegans and Drosophila and, coupled with available evidence suggesting that 239FB is a tumor suppressor, indicate the important role this protein must play in diverse cellular events.
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PMID:Characterization of an evolutionarily conserved metallophosphoesterase that is expressed in the fetal brain and associated with the WAGR syndrome. 1900 15