Tag Archives: division

Changes in gene explain more of inherited risk for rare disease

The formation of multiple schwannomas is one sign that a person has the genetic disorder called schwannomatosis, which is one of the three major forms of neurofibromatosis, besides neurofibromatosis types 1 and 2. The condition is so named because the tumors originate in Schwann cells that form in sheaths that insulate nerves to cause severe, chronic pain in many patients. To date, physicians cannot give most patients a confirmed diagnosis for schwannomatosis, even if they show symptoms, because changes in genes linked to the condition by past studies explain only about 50 percent of familial and less than 10 percent of sporadic cases. …

Role for sugar uptake in breast cancer revealed

"A dramatic increase in sugar uptake could be a cause of oncogenesis," Bissell says. "Furthermore, through a series of painstaking analysis, we have discovered two new pathways through which increased uptake of glucose could itself activate other oncogenic pathways. This discovery provides possible new targets for diagnosis and therapeutics." Working with Bissell, Yasuhito Onodera, a Japanese postdoctoral fellow in her research group who is now an assistant professor in Japan, examined the expression of glucose transporter proteins in human breast cells. The focus was on the glucose transporter known as GLUT3, the concentrations of which Onodera and Bissell showed are 400 times greater in malignant than in non-malignant breast cells…

Physicians who prefer hospice care for themselves more likely to discuss it with patients

"Having timely discussions with terminally-ill cancer patients to establish goals for end-of-life care is important to maximize the quality of patient care. But by and large we’re not doing a good job at having these discussions early on," says lead author Garrett Chinn, MD, MS, of the Massachusetts General Hospital Division of General Medicine. "We know that patients facing terminal illness often wish to spend their remaining days at home, surrounded by loved ones. Since end-of-life care in the U.S…

Potential of protein-measurement technique to standardize quantification of entire human proteome

The study, to be published Dec. 8 online in the journal Nature Methods, shows that the scientists’ targeted protein-detection approach has the potential to systematically and reliably measure the entire human repertoire of proteins, known as the proteome. …

X-linked severe combined immunodeficiency syndrome: Gene therapy trial shows promising early results

Eight of the nine boys registered to date in the new trial are alive and well, with functioning immune systems and free of infections associated with SCID-X1, between nine and 36 months following treatment, according to Sung-Yun Pai, MD, a pediatric hematologist-oncologist from Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. She presented the findings at the 55th annual meeting of the American Society of Hematology on behalf of the Transatlantic Gene Therapy Consortium (TAGTC). The investigators continue to monitor the children for signs of treatment-associated leukemia, which developed three to five years post-treatment in the prior trial. …

Malignant cells adopt different pathway for genome duplication

For one of our cells to give birth to two daughter cells, it must first replicate its DNA which consists of around 6.4 billion pairs of nucleotides. The double-stranded DNA opens up like a zipper, producing a ‘replication fork’ upon which a group of enzymes move about. Present in different regions in the DNA, the forks move with the progression of the replication. Cell proliferation is controlled in particular by specific genes known as proto-oncogenes…

Researchers unravel role of Rb tumor suppressor in aggressive breast cancer

The findings of Rb’s role at multiple points in the disease process point to a potential new therapeutic target in patients with the most aggressive subset of breast cancer, known as basal-like breast carcinomas. This type of cancer has no estrogen receptor expression, and to date there is no efficient therapy for patients who suffer from it, leaving them with a generally poor prognosis. …

Epigenetic changes may explain chronic kidney disease

In a recent Genome Biology paper, Susztak, and her co-corresponding author John Greally from the Albert Einstein College of Medicine, Bronx, NY, found, in a genome-wide survey, significant differences in the pattern of chemical modifications on DNA that affect gene expression in kidney cells from patients with chronic kidney disease versus healthy controls. This is the first study to show that changes in these modifications – the cornerstone of the field of epigenetics – might explain chronic kidney disease. Epigenetics is the science of how gene activity can be altered without actual changes in the DNA sequence. …

Sugar-sweetened beverage consumption increases endometrial cancer risk

Postmenopausal women who reported the highest intake of sugar-sweetened beverages had a 78 percent increased risk for estrogen-dependent type I endometrial cancer (the most common type of this disease). This association was found in a dose-dependent manner: the more sugar-sweetened beverages a woman drank, the higher her risk. "Although ours is the first study to show this relationship, it is not surprising to see that women who drank more sugar-sweetened beverages had a higher risk of estrogen-dependent type I endometrial cancer but not estrogen-independent type II endometrial cancer," said Maki Inoue-Choi, Ph.D., M.S., R.D., who led this study as a research associate in the Division of Epidemiology and Community Health of the University of Minnesota School of Public Health in Minneapolis. "Other studies have shown increasing consumption of sugar-sweetened beverages has paralleled the increase in obesity…