— Early sign of Alzheimer's reversed in lab — One of the earliest known impairments caused by Alzheimer's disease - loss of sense of smell - can be restored by removing a plaque-forming protein in a mouse model of the disease,…
— Parental controls on embryonic development? — When a sperm fertilises an egg, each contributes a set of chromosomes to the resulting embryo, which at these very early stages is called a zygote. Early on, zygotic genes are inert,…
— Newly discovered heart stem cells make muscle and bone — Researchers have identified a new and relatively abundant pool of stem cells in the heart. The findings in the December issue of Cell Stem Cell, a Cell Press publication, show that…
— BUSM researchers develop blood test to detect membranous nephropathy — Research conducted by a pair of physicians at Boston University School of Medicine (BUSM) and Boston Medical Centre (BMC) has led to the development of a test that can help diagnose…
— New hip implants no better than traditional implants — New hip implants appear to have no advantage over traditional implants, suggests a review of the evidence published on bmj.com today…
— Action needed to improve men's health in Europe — Policies aimed specifically at men are urgently needed to improve the health of Europe's men, say experts on bmj.com today…
— Probiotics reduce infections for patients in intensive care — Traumatic brain injury is associated with a profound suppression of the patient's ability to fight infection. At the same time the patient also often suffers hyper-inflammation, due…
— High blood sugar levels in older women linked to colorectal cancer — Elevated blood sugar levels are associated with an increased risk of colorectal cancer, according to a study led by researchers at Albert Einstein College of Medicine of Yeshiva University.…
— Engineered botulism toxins could have broader role in medicine — The most poisonous substance on Earth - already used medically in small doses to treat certain nerve disorders and facial wrinkles - could be re-engineered for an expanded role in helping…
Study reveals new genetic risk factor for both autism and schizophrenia
ASDs include a range of neurodevelopmental conditions that are being diagnosed at an increasing rate. The Centre for Disease Control and Prevention estimates that ASD currently affects 1 in 110 people. The prevalence of schizophrenia, with a diagnostic rate of 1 in 100 to 1 in 20, is similar. ASD and schizophrenia affect males more often than females, and both are thought to have a strong and overlapping genetic component. 'The genetic overlap between ASD and schizophrenia, both of which have a high heritability, has been the focus of several recent studies; however, no single specific genetic cause accounts for more than 1%-2% of cases' says Dr Daniel Moreno-De-Luca, the lead author of the study.
Dr Moreno-De-Luca and colleagues analysed genomic DNA from more than 23,000 patients with ASD, developmental delay, or schizophrenia. They were looking for DNA duplications or deletions referred to as copy-number variants (CNV). Remarkably, they found the same deletion on chromosome 17 in 24 separate patients. This CNV was absent in 52,448 controls, making the finding statistically significant. 'We calculate the risk for this combined sample (ASD and schizophrenia) to be at least 13.58, and probably much higher,' says Dr David H. Ledbetter of Emory University. An odds ratio of 13.58 means that someone with this deletion is 13.58 times more likely to develop ASD or schizophrenia than is someone lacking this CNV.
The gene highlighted in this study is one of 15 contained within the deletion. Mutations in HNF1B have been associated with RCAD, and a number of the studied ASD patients were found to have a family history of kidney disease and/or diabetes. Conversely, RCAD patients often present with neurodevelopmental disorders. 'The phenotypic spectrum of patients with the 17q12 deletion is consistent with a gene syndrome that extends beyond RCAD,' says Dr Moreno-De-Luca. 'We have uncovered a recurrent pathogenic CNV that confers a very high risk for ASD, schizophrenia, and neorodevelopmental disorders.' These data suggest that one or more of the 15 genes are critical for neorocognitive development.
Or subscribe for our Newsletter, a free e-mail publication. It is published practically every day.
'Opt out' system could solve donor organ shortage
Our diet gives deadly bacteria a target
Scientists develop safer, more effective TB vaccine for HIV-positive people
If your systolic stinks, 'rotten egg' gas may be why