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Cholesterol gets 'thumbs up' for role in digit development

of the limb bud where it is normally never detected,"Chiang explained. When Sonic hedgehog travels to tissue where it normally would be absent (as it does when cholesterol is missing), extra digits may form â? a condition known as polydactyly.

Although the causes of polydactyly in humans are not fully understood, mutations in some part of the Sonic hedgehog signaling pathway are high on the list of suspects.

In addition to limb deformities, errors in Sonic hedgehog signaling are involved in a number of other human conditions including cancer and a condition known as holoprosencephaly, a congenital malformation of the forebrain.

Chiang is currently examining the role of cholesterol-modified Sonic hedgehog in the developing brain and spinal cord.

"We are finding some surprises,"Chiang said, "suggesting that the function of cholesterol is different in these different tissues."The continued study of the wide-ranging actions of Sonic hedgehog promises to expose the incredible secrets of the developing embryo and could provide clues for preventing devastating birth defects.


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Source:Vanderbilt University Medical Center


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