Genetic Variation Screening of TNNT2 Gene in a Cohort of Patients with Hypertrophic and Dilated Cardiomyopathy
News Mar 05, 2012
Objectives: Mutations in troponin T (TNNT2) gene represent the important part of currently identified disease-causing mutations in hypertrophic (HCM) and dilated (DCM) cardiomyopathy. The aim of this study was to analyze TNNT2 gene exons in patients with HCM and DCM diagnosis to improve diagnostic and genetic consultancy in affected families.
Methods: All 15 exons and their flanking regions of the TNNT2 gene were analyzed by DNA sequence analysis in 174 patients with HCM and DCM diagnosis. Results: We identified genetic variations in TNNT2 exon regions in 56 patients and genetic variations in TNNT2 intron regions in 164 patients. Two patients were found to carry unique mutations in the TNNT2 gene.
Conclusions: Limited genetic screening analysis is not suitable for routine testing of diseasecausing mutations in patients with HCM and DCM as only individual mutation-positive cases may be identified. Therefore, this approach cannot be recommended for daily clinical practice even though, due to financial constraints, it currently represents the only available strategy in a majority of cardio-centers.
This article was published online in Physiological Research and is free to view online.
New Rapid Test for Valley Fever Should Help Reduce Diagnosis DelaysNews
November saw a spike if cases of Valley fever. Fortunately, the recent—and timely—approval of a new rapid assay test for Valley fever should reduce delays in diagnosing the respiratory fungal infections—a frequent problem in treating the disease, which is caused by spores endemic to soils in the U.S. Southwest.READ MORE
Should Historic Doping Issues Strip All Athletes of World Records?News
A proposal had been put forward by the European Athletics Council to disregard all world records set before 2005 due to issues with doping. However, a recent publication suggests these plans should be abolished.READ MORE
Infrared Spectroscopy Test Can Diagnose Two Cancer TypesNews
Researchers used mid-infrared spectroscopy to analyze blood serum derived from experimental mice and differentiate mice with non-Hodgkin’s lymphoma and subcutaneous melanoma from healthy mice and also between these two tumorous conditions.READ MORE