Interesting new paper - Down syndrome

There’s a new paper out on Down syndrome that I thought I’d share because it demonstrates several points that I think are relevant to PWS. First, it shows how even complex genetic syndromes can be dissected down to the molecular pathways. Further, it demonstrates that understanding which pathways are disrupted can lead to therapeutic interventions;

Nutrient sensing in the hypothalamus

Here’s a new paper out in Nature Neuroscience that explores the ability of the hypothalamus to sense the nutritional status of the body and modulate hunger in response.

A role for PWS-snoRNAs, finally!

There's a new paper out in a top journal, Science, on what is may be the first understanding of the underlying molecular basis of features of PWS - The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C -- I've put the link at the end of the message. Here's the lowdown:

Why is leptin ignored in obese people and animals?

As many of you know, leptin is the signal released from fat cells that relays a message to the brain that the fat cells are 'full' and it's time to stop eating. It has also been discovered that leptin works directly on the fat cells themselves, decreasing their fat-storing ability.

Mighty muscles

Myostatin normally keeps muscles from growing. Scientist are trying to inhibit myostatin as a therapeutic approach for kids with muscular dystrophy; this strategy has just entered clinical trials using an antibody that sops up the myostatin.

Clinical trial - modafinil in ADHD

Here is a new study is just out in the journal “Pediatrics” using the new formulation of modafinil for ADHD in children (age 6-17)

Brain imaging and autism

Brain imaging is really starting to come into its own these days --- the technology is improving and scientists are getting better at interpreting the results. In addition, the NIH is emphasizing support of imagining technology, so hopefully the field will continue to advance pretty quickly.

Narrowing down the genetic region responsible for PWS

Below you'll find the abstract for a newly published paper trying to narrow down exactly which DNA sequences in the PW region of chromosome 15 are responsible for PWS.

Resource: peer review process

Sense about Science is a UK nonprofit that promotes evidence-based science and public education/discussion regarding the scientific process.

Genetic characterization of PWS mouse - FPWR supported

Dr. Rob Nicholls has just published another study supported by FPWR. You may recall that his group developed a mouse model of PWS (and Angelman’s syndrome if inherited maternally) some years back. We are currently supporting his studies to better characterize that model.