SchaferAutismReport: Autism and Mental Retardation Connected With APC Protein

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RESEARCH

Autism and Mental Retardation Connected With APC Protein

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ScienceDaily — A clue to the causes of autism

and mental retardation lies in the synapse, the tiny intercellular junction

that rapidly transfers information from one neuron to the next. According to

neuroscientists at Tufts University School of Medicine, with students from

the Sackler School of Graduate Biomedical Sciences at Tufts, a protein called

APC (adenomatous polyposis coli) plays a key role in synapse maturation, and

APC dysfunction prevents the synapse function required for typical learning

and memory.

The findings are published in the August 18

issue of The Journal of Neuroscience.

" Both sides of the synapse are finely

tuned for efficient transmission; an imbalance on either side can negatively

impact function, resulting in cognitive deficits. Our study reveals that APC

forms a key protein complex in the postsynaptic neuron that also provides

signals to direct synapse maturation in the presynaptic neuron, ensuring that

the two sides of the synapse mature in concert to provide optimal

function, " said senior author Michele H. , PhD, professor in the

department of neuroscience at Tufts University School of Medicine. is

also a member of the cell, molecular and developmental biology; cellular and

molecular physiology; and neuroscience program faculties at the Sackler

School of Graduate Biomedical Sciences at Tufts.

In the in vivo study, the team blocked APC

function and found that synaptic levels of the cell adhesion proteins

neuroligin and neurexin dropped considerably. Without normal levels of these

proteins, synapses were less mature both structurally and functionally.

Mutations in the genes for neuroligin and neurexin are associated with autism

in humans, but until now, little was known about the mechanisms responsible

for localizing these proteins at the synapse. " Our laboratory study is

the first to show that APC is needed to recruit neuroligin and neurexin to

the synapse. This finding provides new insights into the mechanisms required

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RESEARCH

Autism and Mental Retardation Connected With APC Protein

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