Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036341 (schizophrenia)
 60,220 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Disorders in the DNA repair in the human lymphocytes isolated from patients with Marfan's syndrome, homocystinuria, schizophrenia, and gout have been found. In this investigation criteria used estimating the DNA repair were the following: host cell reactivation (vaccinia virus reactivation) and its mutagenesis, DNA repair synthesis, resynthesis of DNA breakages. Lymphoblastoid interferon was used as a modulator of DNA repair activity. Pretreatment of normal human cells with interferon stimulated all steps of DNA repair. In human cells with disorders, interferon stimulated DNA repair (XP) in some cases but failed in others.
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PMID:DNA repair and human pathology. 209 26

Homocystinuria commonly affects the central nervous system (CNS), primarily as mental retardation, seizures, and stroke. Case reports have long suggested a predisposition to schizophrenia, but no careful study of predisposition to psychiatric illness has been performed. Accordingly, we evaluated 63 persons with homocystinuria due to cystathionine beta-synthase deficiency for psychiatric disturbance, intelligence, evidence of other CNS problems, and responsiveness to vitamin B6. The overall rate of clinically significant psychiatric disorders was 51%, predominated by four diagnostic categories: episodic depression (10%), chronic disorders of behavior (17%), chronic obsessive-compulsive disorder (5%), and personality disorders (19%). The average IQ was 80 +/- 27 (1 SD); and an IQ of less than or equal to 79 was two-thirds more common among vitamin B6-nonresponsive patients compared to vitamin B6-responsive patients. Aggressive behavior and other disorders of conduct were particularly common among patients with mental retardation and among vitamin B6-nonresponsive patients.
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PMID:Psychiatric manifestations of homocystinuria due to cystathionine beta-synthase deficiency: prevalence, natural history, and relationship to neurologic impairment and vitamin B6-responsiveness. 359 41

One of the major systems providing cellular homeostasis is a system of DNA repair. Disorders of this system lead to the development of certain diseases, transformation of a normal cell into a malignant one, premature aging of a cell. The activity of reparative systems is related with an enzyme complex controlled by the corresponding genes. A number of hereditary diseases is described in which disturbances in the DNA reparative processes induced by physical or chemical mutagenes are found. Some diseases are also characterized by genome instability due to which there is a spontaneous increase in chromosome aberrations or sister chromatid exchanges. The impairment of the reparative DNA processes was first found in the author's laboratory in a number of hereditary diseases (Marfan's syndrome, homocystinuria) and diseases with hereditary prerisposition (schizophrenia). It is suggested that disorders of reparative DNA systems form the basis for molecular and genetic mechanisms of pathogenesis both in hereditary diseases, and the diseases with hereditary predisposition. Knowledge of the molecular level of cell organization in the pathologic state will ensure new methods of diagnosis and treatment.
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PMID:[Molecular-genetic mechanisms of the pathogenesis of human diseases related to disorders of processes involved in the repair of DNA damage]. 382 30

The autosomal recessive disorder homocystinuria involves, in all its subgroups, an abnormality of methionine metabolism. The metabolism of methionine has been a central focus of interest for those who propose the transmethylation hypothesis of schizophrenia. The "methionine effect," as described in the research literature, is thus a theoretical link between these two disorders. The authors review the literature and describe those cases where both have occurred in the same patient. They indicate that whereas many patients with homocystinuria have been psychotic, few have been actually labeled schizophrenic. A patient with homocystinuria, mental retardation, and episodic psychosis is described and this case is used to point to the difficulties in making a definite psychiatric diagnosis in these patients. A relationship between the two syndromes is suggested.
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PMID:Homocystinuria and schizophrenia. Literature review and case report. 396 12

Homocysteine (tHcy) is an intermediate sulfur-containing amino acid which acts as a methyl group donor for methionine metabolism. Increased serum concentrations (=hyperhomocysteinemia, >10 micromol/l) have been associated with an increased cardiovascular risk. Homocystinuria, an infrequent genetic disease usually due to lack of cystathione beta-synthase, has been found with severely elevated serum homocysteine values (>150 micromol/l). Functional gene polymorphisms of key enzymes (e.g., N5,N10-methylene-tetrahydrofolate reductase) and dietary B-vitamin deficiencies in the elderly are, however, frequent in the 'Western' population. Hyperhomocysteinemia has been associated with other vascular effects such as atherothrombosis and endothelial dysfunction due to its auto-oxidative potential, thereby increasing the production of reactive oxygen species. Other effects may involve neurodegenerative diseases such as Alzheimer or dementia praecox of the elderly. Therapeutic interventions lowering tHcy may therefore offer novel tools for the prevention and treatment of atherosclerosis. B-vitamin supplementation (folic acid=vitamin B9, vitamin B6 and vitamin B12) is an efficient and safe tHcy-lowering therapy, decreases tHcy by 30%-50% and has been shown to lower cardiovascular morbidity and mortality. Furthermore, folic acid supplementation has been shown to reduce or even almost eliminate neurotubular birth defects (spina bifida) and to markedly decrease the rate of megaloblastic anemia. Thus, fortification of flour with folic acid in the USA was advocated several years ago in order to prevent these entities.
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PMID:Homocysteine and B vitamins. 1659 5

Many genetic conditions can mimic mental health disorders, with psychiatric symptoms that are difficult to treat with standard psychotropic medications. This study tests the hypothesis that psychiatric populations are enriched for pathogenic variants associated with selected inborn errors of metabolism (IEMs). Using next-generation sequencing, 2046 psychiatric patients were screened for pathogenic variants in genes associated with four IEMs, Niemann-Pick disease type C (NPC), Wilson disease (WD), homocystinuria (HOM), and acute intermittent porphyria (AIP). Among the 2046 cases, carrier rates of 0.83, 0.98, and 0.20%, for NPC, WD and HOM, and affected rates of 0.10 and 0.24% for NPC and AIP were seen, respectively. An enrichment of known and predicted pathogenic variants in the genes associated with NPC and AIP was found in the psychiatric cohort and especially in schizophrenia patients. The results of this study support that pathogenic variants in genes associated with IEMs are enriched in psychiatric populations. Underlying undiagnosed IEMs could account for the psychiatric symptomatology in a subset of psychiatric patients. Further studies are warranted to investigate the possibility that carriers for IEMs may have an increased risk for psychiatric disorders, particularly in the context of poor treatment response.
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PMID:Enrichment of pathogenic variants in genes associated with inborn errors of metabolism in psychiatric populations. 3055 76