mutations Archives - Family Medicine News

Autism-related genetic mutations occur in aging brains of Alzheimer’s patients

26.11.2019 Health Problems

Researchers believe that autism is caused by mutations that occur sporadically in the egg or sperm or during pregnancy. Activity-dependent neuroprotective protein (ADNP) is a dominant gene whose de novo (during pregnancy) mutations are known to cause autism-related intellectual disabilities. A new Tel Aviv University study has found that ADNP mutations continue to occur in old age and accumulate in […]

Inherited mutations may play a role in pancreatic cancer development

27.02.2019 Health Problems

A small, retrospective study has found that, in patients with particular pancreatic duct lesions, the presence of an inherited mutation in a pancreatic cancer susceptibility gene may increase the patients’ risk of developing pancreatic cancer. To verify these results and learn more about the development of this deadly cancer, the researchers recommend more genetic studies. Their hope—in line with the […]

Healthy blood stem cells have as many DNA mutations as leukemic cells

29.11.2018 Health Problems

Researchers from the Princess Máxima Center for Pediatric Oncology have shown that the number of mutations in healthy and leukemic blood stem cells does not differ. Rather, the location of DNA mutations is relevant. Using the mutation patterns in hematopoietic stem and progenitor cells (HSPCs), the team was able to trace the developmental lineage tree of the cells. Van Boxtel, […]

Optimizing technologies for discovering cancer cell mutations

10.09.2018 Health Problems

Cancer cells often have mutations in their DNA that can give scientists clues about how the cancer started or which treatment may be most effective. Finding these mutations can be difficult, but a new method may offer more complete, comprehensive results. A team of researchers has developed a new framework that can combine three existing methods of finding these large […]

Team discovers gene mutations linked to pancreatic cancer

20.06.2018 Health Problems

Six genes contain mutations that may be passed down in families, substantially increasing a person’s risk for pancreatic cancer. That’s according to Mayo Clinic research published in the June 19 edition of the JAMA. However, because researchers found these genetic mutations in patients with no family history of pancreatic cancer, they are recommending genetic testing for all pancreatic cancer patients […]

Largest-ever study of thyroid cancer genetics finds new mutations, suggests immunotherapy

27.04.2018 Health Problems

University of Colorado Cancer Center researchers recently completed the largest-ever study of thyroid cancer genetics, mining the data of 583 patient samples of advanced differentiated thyroid cancer and 196 anaplastic thyroid cancers. In addition to identification of specific genes that may drive these cancers and thus provide attractive targets for treatment, the researchers found that in several samples of advanced […]

Researchers describe role of novel mutations in fosfomycin resistance

23.04.2018 Health Problems

Researchers identified novel chromosomal mutations and described their role in the development of resistance of Escherichia coli (E. coli) to broad-spectrum antibiotic fosfomycin, according to research presented at the 28th European Congress of Clinical Microbiology and Infectious Diseases (ECCMID). Researchers from France studied the genetic basis of fosfomycin resistance in a panel of E. coli isolates and found that certain […]

Study characterizes proteins resulting from RAS gene mutations, found in more than 20 percent of all human cancers

17.04.2018 Health Problems

When a RAS gene operates normally, it acts as an on/off switch for cell signaling to control cell proliferation. But when the gene mutates, the switch jams into the “on” position, allowing cells to proliferate uncontrollably. This unstoppable cascade inevitably leads to cancer. “The mutation in the gene is very common in pancreatic and colon cancer,” said Neil Kelleher, the […]