Missense mutations occur when there is a change in one gene's DNA base pair, and the change results in the substitution of one amino acid for another in the gene's protein. Mutations that disrupt the function of proteins are widely recognized as a risk source for development disorders such as intellectual disability, congenital heart defects and autism spectrum disorder (ASD).
As the result of a six-year long research process, Fredrick R. Schumacher, PhD, a cancer epidemiology researcher at Case Western Reserve University School of Medicine, and an international team of more than 100 colleagues have identified 63 new genetic variations that could indicate higher risk of prostate cancer in men of European descent. The findings, published in a research letter in Nature Genetics, contain significant implications for which men may need to be regularly screened because of higher genetic risk of prostate cancer.
Researchers at Tokyo Institute of Technology (Tokyo Tech) have identified an enzyme that controls how much our cells secrete collagen. As collagen imbalance is linked to a range of human diseases, the study provides clues to new therapeutic strategies. Moreover, the findings could facilitate efficient production of collagen for the food, cosmetic and pharmaceutical industries.
A new study reveals that pediatric neuroblastoma patients are at elevated risk for long-term psychological impairment. In addition, those who experience such impairment as they get older tend to require special education services and to not go on to college. The findings are published early online in CANCER, a peer-reviewed journal of the American Cancer Society.
About two-thirds of patients admitted to hospital in Ontario for hip fracture did not receive surgery during the recommended time window of 24 hours, according to a new study in CMAJ (Canadian Medical Association Journal )http://www.cmaj.ca/lookup/doi/10.1503/cmaj.170830.
Hip fracture is the most common reason for urgent surgery in Canada, and numbers are increasing, with more than 30 000 procedures performed annually.
DALLAS, June 11, 2018 -- Erectile dysfunction (ED) indicates greater cardiovascular risk, regardless of other risk factors, such as cholesterol, smoking and high blood pressure, according new research published in the American Heart Association's journal Circulation.
In the study, which followed more than 1,900 men, ages 60 to 78, over 4 years, those who reported ED were twice as likely to experience heart attacks, cardiac arrests, sudden cardiac death and fatal or non-fatal strokes.
Mutations in the gene ANT1 may confer a risk for bipolar disorder through a complex interplay between serotonin and mitochondrial signaling in the brain. These two pathways have been separately implicated in bipolar disorder, but the link between levels of the neurotransmitter serotonin and mitochondrial dysfunction had not been established. Researchers at the RIKEN Center for Brain Science (CBS) in Japan now report that mitochondrial dysfunction affects the activity of serotonergic neurons in mice with mutations of ANT1.
Boston (June 10, 2018) - Results from a new clinical study have confirmed the safety and tolerability of using bacteria-specific viruses known as bacteriophages to eliminate disease-causing bacteria in the gut. The new treatment could be used in place of antibiotics to rid the gut of harmful bacteria and promote the growth of beneficial bacteria that are known to enhance gastrointestinal health, immune function and anti-inflammatory processes.
A new study suggests children in the US begin consuming added sugar at a very young age and that many toddlers' sugar intake exceeds the maximum amount recommended for adults.
The study found 99 percent of a representative sample of US toddlers age 19-23 months consumed an average of just over 7 teaspoons of added sugar on a given day--more than the amount in a Snicker's® bar. Sixty percent of children were found to consume added sugar before age 1.
Moderate and extreme ambient temperatures increase the risk of occupational accidents. This is the main conclusion of a new study by the Barcelona Institute for Global Health (ISGlobal), a centre supported by the "la Caixa" Banking Foundation. The study analysed data on nearly 16 million occupational injuries that occurred in Spain over a 20-year period.