Newly Found Gene Implicated in Hair Loss Condition

Mutated APCDD1 gene discovered in analysis of families with hereditary hypotrichosis simplex

THURSDAY, April 15 (HealthDay News) -- Researchers have discovered a genetic mutation that appears to be involved in hair loss in people with hereditary hypotrichosis simplex and perhaps other hair loss conditions, according to research published in the April 15 issue of Nature.

Yutaka Shimomura, M.D., of Columbia University in New York City, and colleagues analyzed the genetic makeup of three families from Pakistan and Italy with hereditary hypotrichosis simplex, the rare condition characterized by hair follicle miniaturization, thin hair and hair loss.

Using genetic linkage analysis, the researchers identified in the families' genotypes a common mutation (Leu9Arg) in the APCDD1 gene, which is located in a specific region on chromosome 18, which has been implicated in other forms of hair loss. The researchers determined that the mutated APCDD1 gene inhibits the Wnt signaling pathway, which previously had been shown to control hair growth in mice.

"Our study provides the first genetic evidence, to our knowledge, that mutations in a Wnt inhibitor result in hair loss in humans. APCDD1 may be implicated in polygenic hair follicle disorders as well, because it resides within linkage intervals on chromosome 18 in families with androgenetic alopecia as well as alopecia areata. Furthermore, because APCDD1 is expressed in a broad range of cell types, our findings raise the possibility that APCDD1 is involved in other Wnt-regulated processes, such as morphogenesis, stem-cell renewal, neural development and cancer," the authors write.

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