Genetic Disorder

Source: au.rd.yahoo.com --- 3 days ago
WASHINGTON (Reuters) - Two genes that influence the activity of nerve cells in the brain may play a key role in a person's risk for bipolar Disorder, marked by dramatic swings from depression to manic behavior, researchers said on Sunday. ...

Source: www.ncbi.nlm.nih.gov --- 11 days ago
Related Articles No evidence for Genetic association between DARPP-32 (PP1R1B) polymorphisms and attention deficit hyperactivity Disorder. Am J Med Genet B Neuropsychiatr Genet. 2008 Apr 5;147(3):339-42 Authors: Laurin N, Ickowicz A, Pathare T, Malone M, Tannock R, Schachar R, Kennedy JL, Barr CL Attention deficit hyperactivity Disorder (ADHD) has a strong Genetic basis, and evidence from human and animal studies suggests that a dopamine system dysfunction plays a role in the Disorder pathophysiology. Several genes involved in dopamine neurotransmission have shown replicated Genetic association with ADHD. These include the dopamine receptors D4 (DRD4), D5 (DRD5), and the dopamine transporter (DAT1) genes. Recently, evidence has also accumulated in favor of the dopamine receptor D1 gene (DRD1). The dopamine- and cAMP-regulated phosphoprotein of relative molecular mass of 32 kDa (DARPP-32) is a key component of dopamine signaling, acting as a converging point for several neurotransmitter systems influencing dopaminergic neurons and regulating a wide variety of downstream effectors. Here, we tested the DARPP-32 gene, PPP1R1B, for association with ADHD using four polymorphic markers selected across the gene in a sample of 255 ADHD families. We did not detect evidence of association of individual marker alleles and haplotype analysis did not reveal significant association in this sample of families. Moreover, we found no relationship betwee ...

Source: www.ncbi.nlm.nih.gov --- 11 days ago
Related Articles Genetic basis of the relationship between attention-deficit/hyperactivity Disorder and binge eating. Nutr Rev. 2008 Jun;66(6):357 Authors: Kapoor S PMID: 18522626 [PubMed - indexed for MEDLINE] ...

Source: www.moreover.com --- 33 days ago
Researchers at the University of California, Irvine have found 78 genes that show a similar pattern of abnormal regulation in the brains of people suffering from schizophrenia and those with bipolar Disorder. ...

Source: www.ncbi.nlm.nih.gov --- 4 hours ago
Related Articles Further evidence for shared Genetic effects between psychotic bipolar Disorder and P50 suppression: a combined twin and family study. Am J Med Genet B Neuropsychiatr Genet. 2008 Jul 5;147B(5):619-27 Authors: Hall MH, Schulze K, Sham P, Kalidindi S, McDonald C, Bramon E, Levy DL, Murray RM, Rijsdijk F P50 suppression deficit has been reported in patients with psychotic bipolar Disorder. In our previous report on twin pairs concordant and discordant for bipolar Disorder, we found significant Genetic overlap between bipolar Disorder and P50 sensory gating. However, the sample size in that study was relatively small. A separate study, the Maudsley Bipolar Family Study, reported diminished P50 gating in unaffected relatives of psychotic bipolar patients. However, Genetic and environmental influences are confounded in family studies due to lack of monozygotic (MZ) twin pairs. The current study combines the twin sample and the family sample in order to improve statistical power and study design, with the aims of: (1) substantiating the association between psychotic bipolar Disorder and diminished P50 suppression and (2) verifying the Genetic overlap between the two traits reported in the twin sample. We also assessed the relationship between bipolar Disorder and an alternative suppression index, the P50 Condition-Testing (C-T) amplitude difference. A total of 309 subjects was included in this study, comprising 91 twin pairs, ...

Source: www.moreover.com --- 24 days ago
New Delhi (PTI): A possible cure to hereditary degenerative blindness through a new gene therapy might be in the offing as suggested by a recent study undertaken by a group of US researchers. ...

Source: www.moreover.com --- 39 days ago
Drug reverses mental retardation caused by Genetic Disorder (NewsRx. ...

Source: www.reuters.com --- 3 days ago
WASHINGTON (Reuters) - Two genes that influence the activity of nerve cells in the brain may play a key role in a person's risk for bipolar Disorder, marked by dramatic swings from depression to manic behavior, researchers said on Sunday. ...

Source: www.ncbi.nlm.nih.gov --- 23 days ago
Related Articles Common Genetic and environmental influences on major depressive Disorder and conduct Disorder. J Abnorm Child Psychol. 2008 Apr;36(3):433-44 Authors: Subbarao A, Rhee SH, Young SE, Ehringer MA, Corley RP, Hewitt JK The evidence for common Genetic and environmental influences on conduct Disorder (CD) and major depressive Disorder (MDD) in adolescents was examined. A sample of 570 monozygotic twin pairs, 592 dizygotic twin pairs, and 426 non-twin siblings, aged 12-18 years, was recruited from the Colorado Twin Registry. For the past year data, there was a significant correlation between the Genetic influences on MDD and CD and, for the lifetime data, there was a significant correlation between the Genetic influences on MDD and CD, and a significant correlation between the nonshared environmental influences on MDD and CD. Our results suggest that some Genetic factors will increase an individual's vulnerability to both MDD and CD in adolescence. PMID: 17965930 [PubMed - indexed for MEDLINE] ...

Source: www.ncbi.nlm.nih.gov --- 49 days ago
Related Articles Genetic and environmental influences on the relation between attention problems and attention deficit hyperactivity Disorder. Behav Genet. 2008 Jan;38(1):11-23 Authors: Derks EM, Hudziak JJ, Dolan CV, van Beijsterveldt TC, Verhulst FC, Boomsma DI OBJECTIVE: The assessment of symptoms of ADHD in children is usually based on a clinical interview or a behavior checklist. The aim of the present study is to investigate the extent to which these instruments measure an underlying construct and to estimate the Genetic and environmental influences on individual differences in ADHD. METHODS: Maternal ratings were collected on 10,916 twins from 5,458 families. Child Behavior Checklist (CBCL) ratings were available for 10,018, 6,565, and 5,780 twins at the ages 7, 10, and 12, respectively. The Conners Rating Scale (4,887 twins) and the DSM interview (1,006 twins) were completed at age 12. The magnitude of Genetic and environmental influences on the variance of the three measures of ADHD and the covariance among the three measures of ADHD was obtained. RESULTS: Phenotypic correlations range between .45 and .77. Variances and covariances of the measurements were explained mainly by Genetic influences. The model that provided the best account of the data included an independent pathway for additive and dominant Genetic effects. The Genetic correlations among the measures collected at age 12 varied between .63 and 1.00. CONCLUSIONS: T ...

Source: www.ncbi.nlm.nih.gov --- 27 days ago
Related Articles No evidence for involvement of Genetic variants in the X-linked neuroligin genes NLGN3 and NLGN4X in probands with autism spectrum Disorder on high functioning level. Am J Med Genet B Neuropsychiatr Genet. 2008 Jun 5;147B(4):535-7 Authors: Wermter AK, Kamp-Becker I, Strauch K, Schulte-Körne G, Remschmidt H Several lines of evidence indicate a role of mutations in the two X-linked genes neuroligin 3 (NLGN3) and neuroligin 4 (NLGN4X) in the etiology of autistic spectrum disorders. To analyze whether Genetic variants in the NLGN3 and NLGN4X genes occurs in patients with autistic disorders on high functioning level, we performed a mutation screen of both genes using SSCP in 107 probands with Asperger syndrome, high-functioning autism and atypical autism. We identified four polymorphisms (rs2290488, rs7049300, rs3747333, rs3747334) and one novel synonymous variant (A558) in the NLGN4X. The polymorphisms rs7049300, rs3747333, and rs3747334 did not cause any amino acid substitutions in the total of the eight detected carriers. A family-based association study for rs2290488 in 101 trios did not reveal association of this polymorphism with autistic disorders on high functioning level. We conclude that there is no evidence for an involvement of NLGN3 and NLGN4X Genetic variants with autism spectrum Disorder on high functioning level in our study group. PMID: 18189281 [PubMed - indexed for MEDLINE] ...

Source: www.boston.com --- 34 days ago
Biotechnology company Genzyme Corp. said today that it will pay PTC Therapeutics Inc. $100 million upfront to license rights to a developing treatment for Genetic disorders. The deal with privately-held PTC gives Genzyme rights to market PTC124 outside of the United States and Canada. The compound is in late-stage development for a type of muscular dystrophy and for cystic fibrosis. In addition to the $100 million upfront, PTC is eligible to receive up to $337 million in milestone payments and royalties on sales. PTC is responsible for funding current Phase IIb clinical trials, but the companies will split costs on further development. "PTC124 is a powerful new approach that holds great potential to help cystic fibrosis and Duchenne muscular dystrophy patients and many others with a variety of devastating diseases," said Henri A. Termeer, Genzyme's chairman and chief executive, in a statement. Genzyme said its experience with the drug Myozyme, which treats the Genetic Disorder Pompe disease, will be directly applicable to the deal for PTC124, since Myozyme patients are treated by the same specialist physicians. The company's best-selling drug is Cerezyme, a treatment for the Genetic Disorder Gaucher disease. Sales of that drug reached $304.3 million in the first quarter, followed by the kidney disease treatments Renagel and Renvela, with sales of $168.7 million. Shares of Genzyme fell 9 cents to $78.88 in morning trading. (AP) ...

Source: www.mailonsunday.co.uk --- 50 days ago
Artist Sophie Montgomery is slowly losing her sight. Here she talks to Louette Harding about how she copes – and the fact that she has noticed symptoms in some of her children. ...

Source: www.prweb.com --- 48 days ago
The Salk Institute, a leading institution on biological research has partnered with the Foundation for Prader-Willi Research to dig into and unlock the mysteries of Prader-Willi syndrome and its obesity related impacts. (PRWeb Jul 3, 2008) Read the full story at http://www.prweb.com/releases/prader_willi/syndrome_research/prweb1071314.htm ...

Source: www.medicinenet.com --- 34 days ago
Title: Genetic Disorder Drug Helps Reverse Heart Muscle Enlargement Category: Health News Created: 5/31/2008 2:00:00 AM Last Editorial Review: 6/2/2008 ...

Source: www.medicalnewstoday.com --- 30 days ago
Both schizophrenia and bipolar Disorder can be disabling conditions, and both present clinically with significant mood and psychotic symptoms. These two illnesses also share Genetic variants that might be involved in the predisposition to both disorders. ...

Source: www.physorg.com --- 37 days ago
In a cruel irony, testis cells carrying the mutation that causes Apert's syndrome are fitter than normal cells, even though children born from sperm derived from those cells are weakened by fused fingers, toes and skulls, a new study has found. ...

Source: www.medicalnewstoday.com --- 34 days ago
In a cruel irony, testis cells carrying the mutation that causes Apert's syndrome are fitter than normal cells, even though children born from sperm derived from those cells are weakened by fused fingers, toes and skulls, a new study has found. ...

Source: www.sciencedaily.com --- 34 days ago
Both schizophrenia and bipolar Disorder can be disabling conditions, and both present clinically with significant mood and psychotic symptoms. These two illnesses also share Genetic variants that might be involved in the predisposition to both disorders. ...

Source: www.dnaindia.com --- 22 days ago
A possible cure to hereditary degenerative blindness through a new gene therapy might be in the offing as suggested by a recent study undertaken by a group of US researchers. ...