Mutation News and Research

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Osteopontin plays a role in X-linked hypophosphatemia

Diagnosed in toddlers, X-linked hypophosphatemia (XLH) is the most common form of heritable rickets, in which soft bones bend and deform, and tooth abscesses develop because infections penetrate soft teeth that are not properly calcified. Researchers at McGill University and the Federal University of Sao Paulo have identified that osteopontin, a major bone and tooth substrate protein, plays a role in XLH. Their discovery may pave the way to effectively treating this rare disease.

21 Feb 2013

Four genetic variations may increase risk of colorectal cancer

An international research team co-led by cancer prevention researcher Ulrike "Riki" Peters, Ph.D., M.P.H., and biostatistician Hsu Li, Ph.D., at Fred Hutchinson Cancer Research Center has identified variations in four genes that are linked to an increased risk of colorectal cancer.

21 Feb 2013

Blood type, blood protein mutations influence thromboembolism risk

Findings from two Danish studies have shown that ABO blood type, both alone and in combination with the presence of factor V and prothrombin mutations, is associated with increases in risk for venous thromboembolism.

20 Feb 2013

Gene mutation findings classify renal cell carcinoma

Researchers have identified mutation-defined subtypes of clear cell renal cell carcinoma that have distinct clinical outcomes.

20 Feb 2013

Researchers analyze more than 60 brands of cheese available in supermarkets for pollutants

Researchers at the University of Las Palmas de Gran Canaria (Spain) have analysed more than 60 brands of cheese commonly available in supermarkets. The concentration of organochloride contaminants in the majority of the samples was lower than levels set by European legislation, but in a few cases it was higher.

20 Feb 2013

CINJ researcher receives PCF grant for study on lung cancer detection and prevention

Sharon Pine, PhD, a researcher at The Cancer Institute of New Jersey and assistant professor of medicine at the University of Medicine of Dentistry of New Jersey-Robert Wood Johnson Medical School has been awarded a two-year, $80,000 dollar research grant from the Prevent Cancer Foundation.

20 Feb 2013

TP63 gene correlates significantly with worse prognosis of melanoma

Scientists at Queen Mary, University of London have identified a gene present in some melanoma which appears to make the tumour cells more resistant to treatment, according to research published today in the Journal of Experimental Medicine.

19 Feb 2013

Clonal evolution explains unpredictable leukemia disease course

Scientists have revealed the complicated clonal evolution of chronic lymphocytic leukemia, giving insight into the variation in disease course and its response to treatment.

19 Feb 2013

Article details mechanism by which long non-coding RNA-activators promote gene expression

Long segments of RNA- encoded in our DNA but not translated into protein-are key to physically manipulating DNA in order to activate certain genes, say researchers at The Wistar Institute. These non-coding RNA-activators (ncRNA-a) have a crucial role in turning genes on and off during early embryonic development, researchers say, and have also been connected with diseases, including some cancers, in adults.

18 Feb 2013

Researchers discover genetic defect that can halt cell growth

A Melbourne-based research team has discovered a genetic defect that can halt cell growth and force cells into a death-evading survival state.

18 Feb 2013

Study shows how gene mutations affect calcium pathway in arrhythmia

Using powerful X-rays, University of British Columbia researchers have reconstructed a crime scene too small for any microscope to observe - and caught the culprit of arrhythmia in action.

17 Feb 2013

Parkinson's-related mutations may also affect vision

The most common genetic cause of Parkinson's is not only responsible for the condition's distinctive movement problems but may also affect vision, according to new research by scientists at the University of York.

16 Feb 2013

Researchers identify mechanism through which mitochondria control breast tumor aggressiveness

Doctors currently struggle to determine whether a breast tumor is likely to shift into an aggressive, life-threatening mode-an issue with profound implications for treatment. Now a group from The Scripps Research Institute (TSRI) has identified a mechanism through which mitochondria, the powerhouses of a cell, control tumor aggressiveness.

16 Feb 2013

TSG might be novel compound for treatment of Alzheimer's and dementia with Lewy body

Administration of the active compound tetrahydroxystilbene glucoside (TSG) derived from the Chinese herbal medicine Polygonum multiflorum Thunb, reversed both overexpression of α-synuclein, a small protein found in the brain, and its accumulation using a mouse model of Alzheimer's disease.

16 Feb 2013

Study finds little long-term survival advantage for women with ovarian cancer and BRCA mutations

Researchers at Moffitt Cancer Center and colleagues in Toronto and at Yale University studied the long-term survival of women with a BRCA1 or BRCA2 gene mutation who were diagnosed with invasive ovarian cancer. They found that the short-term benefit to having either mutation does not lead to a long-term survival benefit.

16 Feb 2013

Canine Pompe disease can now be diagnosed with genetic test

Pompe disease, a severe glycogen storage disease appearing in Lapphunds is caused by a genetic defect in acid α-glucosidase gene. The same genetic mutation also causes the equivalent disease in humans. Based on this finding, canine Pompe disease can now be diagnosed with a genetic test.

16 Feb 2013

Selumetinib shrinks tumors in women with low-grade ovarian cancer

Researchers at The University of Arizona Cancer Center at St. Joseph's Hospital and Medical Center in Phoenix have discovered that many women with low-grade serous carcinoma of the ovary or peritoneum have seen their tumors stabilize or shrink after taking a regular dose of the compound selumetinib.

15 Feb 2013

Researchers show how gene mutations shift and evolve over time in chronic lymphocytic leukemia

Tumors are not factories for the mass production of identical cancer cells, but are, in reality, patchworks of cells with different patterns of gene mutations. In a new study, researchers at Dana-Farber Cancer Institute and the Broad Institute show, more fully than ever before, how these mutations shift and evolve over time in chronic lymphocytic leukemia (CLL) - providing a strobe-like look at the genetic past, present, and future of CLL tumors.

15 Feb 2013

DNA repair mechanisms tied to reproductive aging

Age-related decline in the efficacy of DNA repair may underlie reproductive aging, say researchers.

14 Feb 2013

Researcher to study ADAM12 gene in breast tumor initiating cells

A Kansas State University professor's research on breast cancer stem cells may help improve survival rates by preventing cancer recurrence and metastasis -- the major causes of death among breast cancer patients.

14 Feb 2013