Researchers reveal how the alteration of a single nucleotide—the basic building block of DNA—could initiate fragile X syndrome, the most common inherited form of intellectual disability. The study appears in The Journal of Cell Biology.
Fragile X syndrome is caused by a defect in a gene on the X chromosome called fragile X mental retardation 1 (FMR1). Around 1 in 230 women and 1 in 360 men carry a so-called premutation, in which a series of DNA repeats at one end of the FMR1 gene is slightly longer than normal. These repeats are prone to even further expansion when FMR1 is passed from mother to child, causing the gene to switch off and stop producing a protein that is important for some cognitive functions.
When we learn, we associate a sensory experience either with other stimuli or with a certain type of behavior. The neurons in the cerebral cortex that transmit the information modify the synaptic connections that they have with the other neurons. According to a generally-accepted model of synaptic plasticity, a neuron that communicates with others of the same kind emits an electrical impulse as well as activating its synapses transiently.
Changes in ADNP gene may be among the most common causes of autism
A new study from Bradley Hospital has identified a genetic change in a recently identified autism-associated gene, which may provide further insight into the causes of autism. The study, now published online in the Journal of Medical Genetics, presents findings that likely represent a definitive clinical marker for some patients’ developmental disabilities.
Findings, published in Nature, could lead to improved treatments for stroke, other brain injuries
Learning a new skill is easier when it is related to ability that we already possess. For example, a trained pianist might learn a new melody more easily than learning how to hit a tennis serve.
The hormone erythropoietin (EPO) could prevent brain injuries in very premature babies, a study suggests.
Brain scans show EPO - used illegally by athletes to boost performance - may help infants when given after birth.
The study, published in the Journal of the American Medical Association, involved almost 500 babies born between 26 and 31 weeks in Switzerland.
The researchers are calling for wider trials of the hormone, which is already given to some babies to treat anaemia.
Erythropoietin is a hormone that stimulates production of red blood cells.