TNF-related ligand family is involved in the early epithelial-mesenchymal interaction that regulates ectodermal appendage formation.The X-linked EDA gene has lesions that cause the anhidrotic ectodermal dysplasia. Scientists have cloned a 1.6-kilobase 5’-collateral region of the human EDA gene and used it to analyze features of transcriptional regulation. Primer extension analysis located a single transcription initiation site about the translation start site. When the cloned fragment was placed about a reporter gene (luciferase) and transferred into a series of cultured cells, expression comparable with that conferred by an SV40 promoter-enhancer was observed. The region lacks a TATA box sequence, and basal transcription from the unique start site is dependent on two binding sites for the Sp1 transcription factor. Current TreatmentThere is no specific treatment for this disorder. Cosmetic and functional improvements can be made through the use of wigs, when there is no scalp hair, and through the use of dentures for missing teeth. Synthetic tears are available to replace normal tearing and prevent drying of the eyes. The nose may have to be irrigated regularly to get rid of purulent debris and prevent infections. Temperature control is a constant problem. Affected people require a cooler climate and may require frequent cooling water baths to maintain normal body temperature. One suck cooling device is called a “cooling suit”. This device is a vest-like suit that includes a coolant that is circulated through the garment by a battery operated power jack. These suits are not practical because they attract unwanted attention to people with ectodermal dysplasia. Sun glasses may be worn to prevent eye injuries. Nail polish may be used to help make the nails look better. Hearing aids are available to help promote better hearing.Gene therapy is a new medical procedure that complements faulty a gene with a h...
