Venerdì, 19 Ottobre 2018

Italians make major progress with autism research


(ANSA) - Genoa, September 25 - A promising development that
could help progress towards a cure for one form of autism has
been made by a research team led by Genoa-based, Italian medical
researcher Daniele Piomelli.
Genetically caused autism is most commonly due to a problem
with the X chromosome, known as ''Fragile X Syndrome''.
Children born with Fragile X Syndrome fail to produce a
protein called the FMRP (Fragile X Mental Retardation Protein),
which is required for normal neural development.
Piomelli and his team report they found a molecule that
stimulates a ''corrective'' action in the brain of genetically
modified mice carrying Fragile X Syndrome.
The molecule appears to normalize neural functioning, the
researchers found.
Piomelli's team first studied the role of FMRP protein in
neural function using the genetically modified mice, and found
that FRMP interacts on production of a particular substance in
When FRMP is absent, the neurons of certain regions of the
brain lose the ability to produce the substance (2-AG), creating
a neurological deficit that results in autistic behavior.
The research group looked for a pharmacological substance
that could correct the deficit by increasing the effects of the
brain's existing 2-AG.
Doing so restored normal neural function in the brains of
the genetically modified mice.
''These results are important because they demonstrate the
existence of molecules capable of normalizing the effects of the
disease on behavior. Unfortunately, this does not mean that we
have a cure yet for autism, but that we have discovered a
promising path for orienting pharmacological research,''
Piomelli said.
The discovery was announced Tuesday by Genoa's Istituto
Italiano di Tecnologia, where Daniele Piomelli holds a position.
Piomelli also teaches at the University of California at Irvine.
The Istituto Italiano di Tecnologia added that the research
has been published in Nature Communications, an online
peer-reviewed science journal.

photo: a laboratory mouse.

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