Researchers at Ben-Gurion University of the Negev (BGU) have discovered that gene mutations that once helped humans survive may increase the possibility for diseases, including cancer.

Pieces in the complex autism inheritance puzzle are emerging in the latest study from a research team including geneticists from the University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia. The study identified 27 different genetic regions where rare copy number variations – missing or extra copies of DNA segments – were found in the genes of children with autism spectrum disorders, but not in the healthy controls.

Scientists report that human gene mutations expressed in yeast cells can predict the severity of Batten Disease, a fatal nervous system disorder that begins during childhood. The new study published in Disease Models & Mechanisms (DMM), dmm.biologists.org, describes how the extent of changes in mutated cells paralleled the severity of symptoms seen in humans.

Gene mutations that make cells cancerous can sometimes also make them more sensitive to chemotherapy. A new study led by cancer researchers at Ohio State University shows that a mutation present in some cases of acute leukemia makes the disease more susceptible to high doses of a particular anticancer drug.

This study focused on the gene for AMPK (adenosine monophosphate-activated protein kinase), which controls the amount of energy in our cells by becoming active when fuel stores start to deplete, such as during exercise. The mutation discovered in individuals from two unrelated families caused a doubling of AMPK activity in muscle during rest, mimicking a state of exercise.

When it comes to the FOXP2 gene, humans have had most to shout about. Discoveries that mutations in this gene lead to speech defects and that the gene underwent changes around the time language evolved both implicate FOXP2 in the evolution of human language.

Scientists at Johns Hopkins have developed a mouse model for schizophrenia in which a mutated gene linked to schizophrenia can be turned on or off at will.