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Missing proteins lead to rare congenital scalp defect



Photo by: Alborz Fallah via Wikimedia Commons

Researchers have identified the mechanisms behind mutations that cause the congenital condition known as aplasia cutis congenita (ACC)—when children are born with an absence of skin along the midline of the scalp.


Investigators at Massachusetts General Hospital modelled these mutations in KCTD1 or KCTD15 genes and found they lead to the impairment of certain proteins that normally express growth factors to induce skin formation over the skull. The study was published in The Journal of Clinical Investigation.


In the study, the authors determined that the ACC-related KCTD1 and KCTD15 mutations result in a lack of function of the KCTD1 and KCTD15 proteins expressed by these genes.

Without KCTD1 and KCTD15, which interact with each other to form protein complexes within cells, neural crest cells were impaired, resulting in diminished expression of growth factors that normally stimulate the formation of skin.


The investigators noted that additional experiments revealed these proteins had other important roles in the formation of skin appendages, including hair, sweat glands, and sebaceous glands.


“We solved a centuries-old enigma, which allows us now to explain why this congenital skin disease affects the midline scalp but not other areas of the skin,” senior author Alexander G. Marneros, MD, PhD, said in a press release.


“In the process of this study, we also uncovered fundamental new insights into mechanisms that orchestrate skin and skin appendage formation.” He is a principal investigator at the Cutaneous Biology Research Center of MGH and an associate professor of Dermatology at Harvard Medical School.


They noted that these findings may help develop strategies to target the anomalies associated with ACC.

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