Gene Mutations Shown to Cause Hereditary Spastic Paraplegia
Mutations in more than 70 genes are known or suspected to be responsible for hereditary spastic paraplegia (HSP) at the present time.
Mutations in more than 70 genes are known or suspected to be responsible for hereditary spastic paraplegia (HSP) at the present time.
‘Targeted therapies are a growing trend in basic and clinical cancer research, the effective implementation of a targeted therapeutic regime requires a practical means for preemptive molecular characterization of the cancer.’
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The identification and functional analysis of tumor-specific genetic alterations suggest opportunities to exploit genetic mutations as predictors of therapeutic response and guide a more effective patient treatment regime. The protein product of the normal KRAS gene is involved primarily in regulating cell division. "Targeted therapies are a growing trend in basic and clinical cancer research, and for good reason -- the potential for improved treatment outcomes and cost savings is tremendous," explained lead investigator Kimberly A. Kelly, PhD, of the Department of Biomedical Engineering, University of Virginia, Charlottesville, VA. "However, the effective implementation of a targeted therapeutic regime requires a practical means for preemptive molecular characterization of the cancer. In an effort to fulfill the unmet clinical demand for a methodology amenable to the requirements of routine testing, we developed a novel approach that provides simple, rapid, and inexpensive detection of point mutations."
Conventional mutation testing technologies are not ideal for routine clinical screening of KRAS mutations because they often involve complex, time-consuming processes and/or costly instrumentation. Investigators have therefore developed and tested a new technique for lung and colorectal cancer samples that can be used in routine testing.
Genetic Testing for BRCA Gene Mutations on the Rise in Young Women
Women who are carriers of BRCA1 and BRCA2 gene mutations are at increased risk of developing breast cancer.
Women who are carriers of BRCA1 and BRCA2 gene mutations are at increased risk of developing breast cancer.
The investigators analyzed 20 lung and colorectal tumors and compared the results using this new technique with results from the more expensive and cumbersome sequencing method. The results of KRAS mutation screening using this technique were 100% in agreement with the results derived from sequencing. In addition, a sample with only 25% KRAS mutant content could be detected in a background of wild-type DNA, consistent with the detection limit reported using the sequencing method.
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Gene Mutations May Trigger Gastrointestinal Disorders in Autistic Children
Children with autism spectrum disorder are four times more likely to suffer from gastrointestinal problems than other children.
Children with autism spectrum disorder are four times more likely to suffer from gastrointestinal problems than other children.
Source-Eurekalert
T-Cell Therapy Targeting Tumor Gene Mutations Could Be a Better Cancer Treatment
T cells are special forces of the immune system that patrol the body and are equipped with T cell receptors molecules.
T cells are special forces of the immune system that patrol the body and are equipped with T cell receptors molecules.
