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Gene Believed Linked to Kidney Disease
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Business New Haven
1/22/2001
By: BNH
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NEW HAVEN - A Yale researcher and collaborators have found that defects in the thin, hair-like projections lining the ducts and tubules of the kidneys, known as primary cilia, may be responsible for a kidney disease affecting one in 10,000 children.
According to the study, autosomal recessive polycystic kidney disease (ARPKD) is believed to be responsible for an even higher proportion of stillbirths and prenatal deaths. In addition, “Since cilia exist in almost all cells in the body, a shortage or absence of the cilia may be tied to many other diseases,” said Joel Rosenbaum, professor in the Department of Molecular, Cellular and Developmental Biology. “We expect that problems with genes like the one that results in ARPKD will also have effects on the cilia of other tissues, such as the retina and result in retinal degeneration and blindness.
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