A pair of papers from the lab of Fred Gage has provided new insights into the molecular and cellular processes affected i n Rett syndrome . This syndrome is associated with arrested development and autistic features. It affects mainly girls, who typically show normal development until around age two, followed by a sudden and dramatic deterioration of function, regression of language skills and the emergence of autistic symptoms. It is caused mainly by mutations in the gene encoding MeCP2 , which resides on the X chromosome. Complete removal of the function of this gene is effectively lethal, explaining why Rett syndrome is not observed in boys – males who inherit that mutation are not viable. Females, who have a back-up copy of the X chromosome survive but subsequently show the symptoms of the disease. The function of the MeCP2 protein seems very far removed from the kinds of symptoms observed when it is deleted. The job of MeCP2 is to bind to DNA that carries a specific chemica
Showing posts from November, 2010
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An amazing study just published in Cell starts out with fruit flies insensitive to pain and ends up with what looks very like a synaesthetic mouse. Penninger and colleagues were interested in the mechanisms of pain sensation and have been using the fruit fly as a model to investigate the underlying biological processes. Like any good geneticist faced with profound ignorance of how a process works, they began by screening for mutant flies that are insensitive to pain. Making use of a very powerful genetic resource developed in Vienna (a bank of fly lines expressing RNA interference constructs for every gene in the genome) they screened through all these genes to see which ones were required in neurons for flies to respond to pain. (In particular, pain caused by excessive heat). Why should anyone care how a fly feels pain? Well, like practically everything else you can think of, the basic physiology and molecular biology of pain sensation is very highly conserved from flies to mamm
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I am pleased to announce the Wiring the Brain conference, which will be held over the 12th-15th April 2011, in Ireland. This is an international scientific conference which aims to explore how the brain is wired and what happens when that wiring is faulty. It will bring together world-leaders in developmental neurobiology, psychiatric genetics, molecular and cellular neuroscience, systems and computational neuroscience, cognitive science and psychology. A major goal is to break down traditional boundaries between these disciplines to enable links to be made between differing levels of observation and explanation. We will explore, for example, how mutations in genes controlling the formation of synaptic connections between neurons can alter local circuitry, changing the interactions between brain regions, thus altering the functions of large-scale neuronal networks, leading to specific cognitive dysfunction, which may ultimately manifest as the symptoms of schizophrenia or autism.