Experimental drugs that are said to “correct” symptoms of Fragile X, Rett Syndrome, and tuberous sclerosis complex are now in early-stage human trials, the MIT Technology Review reports. The drugs reduce the activity of a receptor called metabotropic glutamate receptor 5, or mGluR5, and have previously been tested on mice, as reported in the June 25-29 issue of the Proceedings of the National Academy of Science. From the MIT Technology Review:
People with fragile X, the most common form of heritable mental retardation and a leading cause of autism, have a mutation in the FMRP gene, which normally inhibits protein synthesis …read more

Could it be something in the water? The answer might seem “yes” if all you read is the headline of an article in today’s Scotsman:
Study reveals water’s role in rare autism

The water in question is not the wet stuff in oceans, lakes or rivers or in pools (where we’re shortly headed to—I told you Charlie liked swimming and I meant it!). It’s water at the molecular level, and is linked to Rett Sydrome, which has been linked to a mutation in the MECP2 gene:
Researchers discovered that Rett’s syndrome is caused by the Mecp2 protein interacting with water trapped around the …read more

Rett Syndrome has been linked to mutations in the MeCP2 gene; Rett Syndrome causes impairments in language and cognitive and fine motor skills and seizures; it is, according to the International Rett Syndrome Foundation, often misdiagnosed as autism.  A recent study published in the June 30 in the Proceedings of the National Academy of Sciences  shows that an early stem cell mutation may be linked to Rett Syndrome. Stem cells can develop into many different types of cells in the body and can “theoretically divide without limit to replenish other cells as long as the person or animal is …read more

Mutations in the MeCP2 gene are known to cause Rett Syndrome, which causes impairments in language and cognitive and fine motor skills; according to the International Rett’s Syndrome Foundation, Rett Syndrome is often misdiagnosed as autism. Scientists have previously thought that the MeCP2 gene repressed other genes—switching them “off”; a study published in the June 1st Science shows that it also activates—-turns “on”—-a number of other genes. While Rett Syndrome occurs almost exclusively in girls, duplications of the MeCP2 gene cause Rett-like symptoms in boys along with (in some cases) severe mental retardation.
The lead author of the study is Huda …read more