Regulatory characterisation of the schizophrenia-associated CACNA1C proximal promoter and the potential role for the transcription factor EZH2 in schizophrenia aetiology

Genomic wide association studies identified the CACNA1C locus as genetically associated with both schizophrenia and bipolar affective disorder. CACNA1C encodes Cav1.2, one of four subunits of L-type voltage gated calcium channels. Variation resides in non-coding regions of CACNA1C which interact with the promoter and are validated expression quantitative trait loci. Using reporter gene constructs we demonstrate the CACNA1C promoter is a major mediator of inducible regulation of CACNA1C activity in the SH-SY5Y neuroblastoma cell line.
Source: Schizophrenia Research - Category: Psychiatry Authors: Source Type: research

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Authors: Perugi G, Pallucchini A, Rizzato S, Pinzone V, De Rossi P Abstract INTRODUCTION: ADHD is characterized by a developmentally inappropriate level of inattentiveness, impulsivity and/or hyperactivity. In adults, the disorder is frequently accompanied by Emotional Dysregulation (ED), associated to a variety of related psychiatric comorbidities, complicating its recognition and treatment management. Areas covered: This paper reviews randomized active comparator-controlled or placebo-controlled trials evaluating the use of pharmacotherapy in adults with ADHD and ED, other neurodevelopmental disorders, Bipolar Di...
Source: Expert Opinion on Pharmacotherapy - Category: Drugs & Pharmacology Tags: Expert Opin Pharmacother Source Type: research
Authors: Imga NN, Karci AC, Oztas D, Berker D, Guler S Abstract Introduction: Vitamin D deficiency is a common problem, and it is related to increased risk of obesity, metabolic syndrome, atherosclerosis, and cardiovascular disease. Vitamin D has a beneficial effect on dyslipidemia and insulin secretion. We aimed to investigate the impact of vitamin D3 supplementation on anthropometric and laboratory parameters in overweight and obese premenopausal women. Material and methods: Seventy-two overweight and 50 obese vitamin-D-deficient premenopausal women (mean age: 43.1 ±10.4 years) were included in the stu...
Source: Archives of Medical Science - Category: General Medicine Tags: Arch Med Sci Source Type: research
CONCLUSIONS: Our findings suggest that in patients hospitalized with encephalopathy, serum electrolyte measurements are not strong predictors of patient outcome. PMID: 31104799 [PubMed - in process]
Source: Annals of Hepatology - Category: Gastroenterology Tags: Ann Hepatol Source Type: research
Publication date: Available online 21 May 2019Source: Stem Cell ResearchAuthor(s): Julie Estève, Jean-Marc Blouin, Magalie Lalanne, Lamia Azzi-Martin, Pierre Dubus, Audrey Bidet, Jérôme Harambat, Brigitte Llanas, Isabelle Moranvillier, Aurélie Bedel, François Moreau-Gaudry, Emmanuel RichardAbstractPrimary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disorder of the liver metabolism due to functional deficiency of the peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT). AGT deficiency results in overproduction of oxalate which complexes with calcium to form insoluble ca...
Source: Stem Cell Research - Category: Stem Cells Source Type: research
ConclusionsSD are frequent in SZ subjects. Major depression, anticholinergic prescription and chronic low-grade peripheral inflammation may be the three targets of interest for addressing this specific issue.
Source: Progress in Neuro Psychopharmacology and Biological Psychiatry - Category: Psychiatry Source Type: research
Several lines of evidence support the hypothesis that abnormally elevated brain levels of kynurenic acid (KYNA), a metabolite of the kynurenine pathway (KP) of tryptophan degradation, play a pathophysiologically significant role in schizophrenia and other major neurodevelopmental disorders. Studies in experimental animal models suggest that KP impairments in these diseases may originate already in utero since prenatal administration of KYNA ’s bioprecursor, kynurenine, leads to biochemical and structural abnormalities as well as distinct cognitive impairments in adulthood. As KP metabolism during pregnancy is still i...
Source: Developmental Neuroscience - Category: Neuroscience Source Type: research
Researchers in Taipei found that about 0.7 percent of people with bipolar disorder develop Parkinson's - compared to just 0.1 percent of people without the mood disorder, according to a new study.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
Publication date: Available online 22 May 2019Source: Biochimica et Biophysica Acta (BBA) - Proteins and ProteomicsAuthor(s): Takako Sasaki, Klaus von der Mark, Harald LanigAbstractFibulin-4 is a 50 kDa glycoprotein of elastic fibers and plays an important role in development and function of elastic tissues. Fibulin-4 consists of a tandem array of five calcium-binding epidermal growth factor-like modules flanked by N- and C-terminal domains. Mutations in the human fibulin-4 gene EFEMP2 have been identified in patients affected with various arteriopathies including aneurysm, arterial tortuosity, or stenosis, but the molec...
Source: Biochimica et Biophysica Acta (BBA) Proteins and Proteomics - Category: Biochemistry Source Type: research
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Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
The approval of first-of-a-kind drugs rose last year to forty-one, resulting in the highest level of newly approved U.S. drugs in nineteen years. The total number of new drugs approved last year was even higher at sixty-nine. The rising figures reflect an industry-wide desire to research and develop drugs for rare and hard-to-treat diseases. The newly approved drugs serve to advance medical care and the health of patients suffering from many ailments, including various forms of cancer, heart failure, and cystic fibrosis. Additionally, more than 40% of the new therapies were approved for treatment of rare or "orphan&...
Source: Policy and Medicine - Category: American Health Authors: Source Type: blogs
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