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x Research: X CHROMOSOME MAY PROVIDE NEW CLUE TO CAUSE OF AUTISM x
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Research Posted by sylvia on Wednesday, October 22, 2003 (15:37:55)

Reuters, New Scientist, 09/09/2003

X may mark the spot in the search for the cause of autism, a leading British research scientist said on September 9.

A part of the brain which is key to reading expressions in people's faces and which is affected by the X chromosome could give a new insight into the causes of the disorder, says Professor David Skuse of the Institute of Child Health in London.

"We have not discovered the cause of autism, but in the X chromosome we may have discovered a mechanism that could lead to a cause," he told reporters at the British Association for the Advancement of Science annual conference in Manchester.

Dr Skuse noted that 10 times more males than females suffered from autism, and that males had an X and a Y chromosome while females had two Xs. Women suffering from Turner Syndrome - in which they have only one X chromosome - had also been found to suffer far higher rates of autism than their double X counterparts, he said.

Dr Skuse said that the key lay in the amygdala, a part of the brain directly involved in processing emotional expressions seen on another's face. In most people, the facial expression was immediately put in context with the aid of the amygdala, with the widely opened eyes that accompanied both fear and joy being correctly interpreted for what they actually represented.

But in people with autism, the amygdala appeared not to function properly and meant that all such expressions were interpreted as fear. This in turn could explain why autistics rarely made eye contact, Dr Skuse added.
Full Article

He said that women with both Xs functioning normally had a fully operational amygdala, while those with only one X - or with only one functioning as it should - had poor expression recognition.

In males, the Y chromosome probably compensated for the key section of the missing X. Where it did not, the amygdala did not function properly.

"We now have evidence of a plausible neural mechanism that puts boys at risk," Dr Skuse said. However, Dr Skuse added, while the general area of the X chromosome that influenced the amygdala had been isolated, it was so large that it would take many years more work to find exactly what gene or genes were the culprits.

The X chromosome carries many genes which are vital for a wide range of physiological functions. Because almost all women have two copies of X chromosome genes, their cells turn off, or inactivate, one copy.

However, not all X-linked genes undergo this inactivation, meaning that women could have higher levels of some gene products in their cells. Dr Skuse suggests it is these "dosage-sensitive" genes which are responsible for the sex differences in autism.

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x x Posted by sylvia on Wednesday, October 22, 2003 (15:37:55) (1824 reads) x x

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