New method uses biochemistry to accurately predict whether a child will develop autism spectrum disorder by measuring the products of metabolic processes.
Researchers at Beth Israel Deaconess Medical Center (BIDMC) have gained new insight into the genetic and neuronal circuit mechanisms that may contribute to impaired sociability in some forms of Autism Spectrum Disorder. Led by Matthew P. Anderson, MD, PhD, Director of Neuropathology at BIDMC, the scientists determined how a gene linked to one common form of autism works in a specific population of brain cells to impair sociability. The research, published in the journal Nature, reveals the neurobiological control of sociability and could represent important first steps toward interventions for patients with autism.
Anderson and colleagues focused on the gene UBE3A, multiple copies of which causes a form of autism in humans (called isodicentric chromosome 15q).Conversely, the lack of this same gene in humans leads to a developmental disorder called Angelman’s syndrome, characterized by increased sociability. In previous work, Anderson’s team demonstrated that mice engineered with extra copies of the UBE3A gene show impaired sociability, as well as heightened repetitive self-grooming and reduced vocalizations with other mice.
Fragile X syndrome is the most common cause of autism. Even though the single gene that’s responsible for it was discovered in 1991, and the disease is detected by a simple blood test, there’s no treatment or cure.
A team of researchers led by Michigan State University, however, has provided a promising lead in battling this disease. In the current issue of Nature Communications, the scientists identified a single protein that appears to be the culprit in causing many behavioral symptoms as well as molecular and cellular abnormalities related to Fragile X.
“We began with 600-800 potential protein targets, searching for the equivalent of a needle in a haystack,” said Hongbing Wang, MSU physiologist and study co-author. “Our needle turned out to be ADCY1. When we compared levels of this protein in Fragile X mouse model to normal controls, we saw a 20-25 percent increase of ADCY1.”
Subsequent tests of the team’s prime-target protein on the Fragile X mouse model revealed four key results. First, by reducing the expression of ADCY1, the team eliminated many autism-like behaviors. Second, the protein’s increased expression caused increased signaling in neurons. By reducing levels of ADCY1, the team dampened neuron signaling to levels within a normal range.
Researchers have observed that a protein called SHANK prevents the spread of breast cancer cells to the surrounding tissue. The SHANK protein has been previously studied only in the central nervous system, and it is known that its absence or gene mutations are related to autism.
The potential repeal of the Affordable Care Act (ACA) threatens to eliminate critical mental and behavioral health services for people living with autism and other disabilities.
Being overweight or obese early in pregnancy was associated with increased rates of cerebral palsy in children, according to a study in Swedish women.
Although autism appears to be on the rise, there are still no reliable biomarkers. A new study looking at links with cerebrospinal fluid may change this.
Study shows strong evidence of a link between excess body fat and cancers of the colon, breast, pancreas and ovary among others Being overweight could increase the risk of a host of cancers, including those of the colon, breast, pancreas and ovary, researchers have warned following a wide review of more than 200 studies. According to previous figures from two leading charities, almost three quarters of people are expected to be overweight by 2035, with 700,000 new cases of obesity-related cancer expected over the next 20 years. The new study by an international team adds weight to the warning, revealing that there is currently strong evidence for a link between excess body fat and an increased risk of 11 cancers: colon, rectum, endometrium, breast, ovary, kidney, pancreas, gastric cardia, biliary tract system and certain cancers of the oesophagus and bone marrow. “I think now the public and physicians really need to pay attention to obesity with respect to cancer,” said Marc Gunter, a