Genetic Mutation

Source: www.ncbi.nlm.nih.gov --- 22 days ago
Related Articles Recurrent paediatric supratentorial extraventricular ependymoma associated with Genetic Mutation at exon 4 of p53 gene. Singapore Med J. 2008 Jul;49(7):e192-4 Authors: Ghani AR, Abdullah JM, Ghazali M, Ahmad F, Ahmad KA, Madhavan M Recurrent supratentorial extraventricular ependymoma in a four-year-old Malay boy treated twice surgically in combination with cranial radiotherapy is reported. He presented with symptoms of raised intracranial pressure and a history of focal seizure. Computed tomography of the brain showed a left supratentorial extraventricular cystic lesion causing a mass effect. The tumour histology was ependymoma (WHO grade II). The clinical course, radiological characteristics and management of this tumour are discussed. Molecular Genetic analysis of p53 and p27 genes revealed substitution of nucleotide G to C at location nucleotide 12139, exon 4 of gene p53. No alteration was detected at exon 5-6 and 8 of p53 gene and exon 1 and 2 of p27 gene. PMID: 18695856 [PubMed - in process] ...

Source: www.moreover.com --- 23 days ago
NewKerala.com Aug 13 2008 3:55AM GMT ...

Source: www.medicalnewstoday.com --- 23 days ago
Little doubt exists that species can originate from two geographically isolated populations; however, the origin of species within a common area - sympatric speciation - remains an outstanding issue for evolutionary biologists. Previous work has focused on the power of natural and sexual selection at promoting sympatric speciation. ...

Source: dx.doi.org --- 28 days ago
We present a vertical transmission of a nonsense Mutation in exon 1 of the Wilms' tumor WT1 gene, from a mother who had Wilms' tumor in infancy and decreased fertility at adulthood, to her son who displayed genitourinary (GU) anomalies, gonadal dysgenesis with gonadoblastoma foci, and intra-abdominal Mullerian derivatives. No Wilms' tumor was detected up to the age of 6 years in the son. Sequence analysis of constitutional DNA of the WT1 gene revealed a heterozygous c.327C > A sequence change in exon 1 leading to a premature stop codon at amino acid 109. This Mutation demonstrates the lack of correlation between genotype-phenotype and Mutation position in the WT1 gene, the presence of intra-familial variability, and the effect of gender on severity of GU anomalies. We suggest that detection of a GU defect in the presence of parental history of Wilms' tumor be followed up by screening of constitutional DNA for WT1 mutations. Explorative laparoscopy for sex organ evaluation and gonadal assessment for possible gonadoblastoma should be considered when constitutional Mutation is detected in males with GU anomalies. © 2008 Wiley-Liss, Inc. ...

Source: www.geneticsandhealth.com --- 23 days ago
Enlarged hearts are found often, but not exclusively, in those who are obese, have diabetes or high blood pressure. People with none of these underlying problems can be affected, as can elite athletes. For example, a post-mortem diagnosed the problem in Cameroon football midfielder Marc-Vivien Foe, who died in 2003 after collapsing during an international match [...] ...

Source: www.medicalnewstoday.com --- 13 days ago
After a surgical procedure, an 18-year old cheerleader from Florida died as a result of malignant hyperthermia, a condition triggered by certain anesthetics where the body heats up to dangerous levels. A study published in the September issue of Anesthesiology has identified a Genetic Mutation that could cause malignant hyperthermia (MH), this rare but potentially deadly condition. ...

Source: www.topix.com --- 29 days ago
1 Comment, last updated on Wednesday Aug 6 by The Big Time ...

Source: news.bbc.co.uk --- 29 days ago
A Genetic Mutation in dachshunds could help uncover the roots of some inherited forms of blindness in humans, say scientists. ...

Source: www.ncbi.nlm.nih.gov --- 1 day ago
Related Articles Mental health and quality of life after Genetic testing for Huntington disease: a long-term effect study in Germany. Am J Med Genet A. 2008 Aug 15;146A(16):2078-85 Authors: Licklederer C, Wolff G, Barth J Predictive Genetic testing for Huntington disease (HD) might cause severe short-term psychological reactions in patients with poor mental health. Very few studies exist on the long-term effects of Genetic HD testing. The aim of this study was to assess mental health and quality of life in persons who were tested for HD Mutation, to compare mental health depending on the result of the Genetic test (non-carriers, gene carriers, and patients with HD) and to identify predictors of mental health and quality of life via linear regression. The data were collected by self-report questionnaires. In total, 121 individuals participated in this study: 52 were non-carriers, 54 were gene carriers, and 15 were gene carriers suffering from HD. Non-carriers and gene carriers showed better mental health and quality of life than HD-patients but did not differ from each other. In non-carriers four variables predicted increased depression and low mental quality of life: low perceived social support, no intimate relationship, female sex and younger age. For gene carriers three predictors were found: low perceived social support, the expectation of an unfavorable Genetic test result before the testing procedure and being childless. To preve ...

Source: www.ncbi.nlm.nih.gov --- 4 hours ago
Related Articles Spinocerebellar ataxia type 28: A novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis. Cerebellum. 2008 Sep 4; Authors: Mariotti C, Brusco A, Di Bella D, Cagnoli C, Seri M, Gellera C, Di Donato S, Taroni F We have recently mapped the spinocerebellar ataxia type 28 (SCA28) locus on chromosome 18p11.22 in a four-generation Italian family. The clinical phenotype in affected individuals of this family was characterized by juvenile onset, slowly progressive gait and limb ataxia, dysarthria, hyperreflexia at lower limbs, nystagmus, and ophthalmoparesis. The mean age at onset was 19.5 years, and no evidence of anticipation between generations was observed. The disease locus on chromosome 18p11.22-q11.2 was found to span a region of 7.9 Mb of genomic DNA. Direct sequencing of candidate genes within the critical interval led to the identification of a heterozygous point Mutation in one of them. The Mutation was located in a highly conserved domain with proposed functional properties in the protein product of the SCA28 gene, and segregated with the disease phenotype in all affected members of this family. Thereafter we have screened 105 patients with autosomal dominant spinocerebellar ataxia who had resulted negative for mutations in known SCA genes. Genetic screening allowed the identification in a second Italian family of a distinct missense Mutation located in the very same functi ...

Source: www.ncbi.nlm.nih.gov --- 2 days ago
Related Articles Mutation analyses in amyotrophic lateral sclerosis/parkinsonism-dementia complex of the Kii peninsula, Japan. Mov Disord. 2008 Aug 29; Authors: Tomiyama H, Kokubo Y, Sasaki R, Li Y, Imamichi Y, Funayama M, Mizuno Y, Hattori N, Kuzuhara S To clarify the Genetic background of amyotrophic lateral sclerosis (ALS)/parkinsonism-dementia complex (PDC) of the Kii peninsula, Japan (Kii ALS/PDC), we performed extended Mutation analyses of three patients with pathologically diagnosed Kii ALS/PDC. Direct sequencing analyses were performed in 19 genes, including ALS/frontotemporal lobar degeneration (FTLD)-related genes (SOD2, SOD3, ALS2/alsin, SMN1, PGRN, ANG, VEGF, VCP, VAPB, DCTN1, CHMP2B, and TARDBP or TDP-43), tauopathy-related gene (GSK3beta), and parkinsonism-related genes (alpha-synuclein, LRRK2, parkin, DJ-1, PINK1, and ATP13A2). Gene dosage analyses were conducted in screening of MAPT, alpha-synuclein, TDP-43 (or TARDBP), GSK3beta, and parkin. We found no Mutation in the 19 genes. We found a homozygous nonsynonymous SNP (ALS2/alsin V368M) shared by all the three patients. Gene dosage was normal in MAPT, alpha-synuclein, TDP-43, GSK3beta, and parkin. The present findings, together with a previous negative study on MAPT and SOD1 Mutation, further elucidated the lack of causative mutations in all exons, exon-intron boundaries, or some rearrangements of the reported major causative or susceptible genes related to ALS, FTLD, p ...

Source: www.ncbi.nlm.nih.gov --- 4 days ago
Related Articles ProTx-II, a selective inhibitor of NaV1.7 sodium channels, blocks action potential propagation in nociceptors. Mol Pharmacol. 2008 Aug 26; Authors: Schmalhofer W, Calhoun J, Burrows R, Bailey T, Kohler MG, Weinglass AB, Kaczorowski GJ, Garcia ML, Koltzenburg M, Priest BT Voltage-gated sodium (NaV1) channels play a critical role in modulating the excitability of sensory neurons, and human Genetic evidence points to NaV1.7 as an essential contributor to pain signaling. Human loss-of-function mutations in SCN9A, the gene encoding NaV1.7, cause channelopathy-associated indifference to pain (CIP); whereas gain-of-function mutations are associated with two inherited painful neuropathies. Although, the human Genetic data make NaV1.7 an attractive target for the development of analgesics, pharmacological proof-of-concept in experimental pain models requires NaV1.7-selective channel blockers. Here, we show that the tarantula venom peptide ProTx-II selectively interacts with NaV1.7 channels, inhibiting NaV1.7 with an IC50 of 0.3 nM, compared to IC50s of 30-150 nM for other heterologously expressed NaV1 subtypes. This subtype selectivity was abolished by a point Mutation in DIIS3. Interestingly, application of ProTx-II to desheathed cutaneous nerves completely blocked the C-fiber compound action potential at concentrations that had little effect on Abeta-fiber conduction. ProTx-II application had little effect on action potential ...

Source: blog.wired.com --- 2 days ago
I joked yesterday that no Genetic link has been found to the funky robot dance. Could I have been wrong? My remark came in a review of overhyped coverage of a Genetic Mutation that in men appears linked to the... ...

Source: www.metafilter.com --- 1 day ago
New Scientist reports today that inhabitants of the former Roman Empire have much lower levels of a gene variant that protects against the virus that causes AIDS - CCR5-Delta32 to be exact. Previously, this Genetic Mutation had been attributed to the spread of the Black Death . ...

Source: www.independent.co.uk --- 25 days ago
Some people are more prone to extreme anxiety because of a Genetic Mutation that they have inherited, according to one of the first studies to investigate the Genetic basis of personality differences that can lead to stress disorders. ...

Source: www.dnaindia.com --- 26 days ago
The man's best friend could soon help him regain vision, for a new study has revealed that a Genetic Mutation in dachshunds might help uncover the roots of some forms of blindness. ...

Source: www.komotv.com --- 35 days ago
The Goheen girls share the same dark hair, same dry sense of humor, and the same rare Genetic Mutation that's given them each a different form of cancer. But now they are raising money for other families facing cancer. ...

Source: www.medpagetoday.com --- 28 days ago
ANN ARBOR, Mich. -- The nicotine "buzz" that leads to addiction in some people arises from a Genetic Mutation that enhances pleasurable responses, investigators here reported. ...

Source: www.katu.com --- 35 days ago
The Goheen girls share the same dark hair, same dry sense of humor, and the same rare Genetic Mutation that's given them each a different form of cancer. But now they are raising money for other families facing cancer. ...