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Essay / Congenital insensitivity to pain with anhidrosis (CIPA)
Congenital insensitivity to pain with anhidrosis (or CIPA) is a rare genetic disorder characterized by the inability to feel pain or temperature and little or no sweating. It is inherited in an autosomal recessive pattern, meaning both parents have a mutated NTRK1 gene, but they do not have any symptoms of CIPA. The damaged NTRK1 gene produces proteins that are unable to transmit signals. Since neurons do not receive any signals from proteins, they carry out apoptosis. Apoptosis is a process by which neurons self-destruct. Without these sensory neurons, people with CIPA cannot feel any pain or temperature. They also lose nerves to their sweat glands, leading to anhidrosis – reduced or no sweating. The aim of this article is to inform you about what CIPA is, what support is available to those who benefit from it, and what research is currently being done on it. I chose to write about CIPA because I thought it was interesting and I wanted to learn more. Congenital insensitivity to pain with anhidrosis is a genetic disorder inherited in an autosomal recessive pattern. This means that both parents have a damaged NTRK1 gene and they pass it on to their offspring. They themselves show no signs of CIPA, but this combination of damaged genes activates it for their children and mutates eleven genes, which can lead to disease. Because the NTRK1 gene is supposed to produce proteins necessary for the development and survival of neurons (nerve cells), but when damaged, it produces proteins that do not transmit signals (usually regarding temperature, pain and touch). CIPA is a disorder. it consists of not being able to feel pain or temperature. People with CIPA also experience anhidrosis, the ability to sweat only a little, or not at all....... middle of article ......Orphanet Journal of Rare Diseases. BioMed Central Ltd. January 29, 2014. .Inouye, Danish. “Congenital insensitivity to pain associated with anhidrosis.” Honohu 6.4 (2008): n. page. University of Hawaii at Hilo Campus Center. University of Hawaii at Hilo, 2008. Web. January 30, 2014. .McKusick, Victor A. "OMIM Entry #256800 - PAIN INSENSITIVITY, CONGENITAL, WITH ANHIDROSE; CIPA." Online Mendelian inheritance in humans (OMIM). Ed. Cassandra L. Kniffin. John Hopkins University, May 21, 2009. Web. January 30, 2014. .NTRK1 location on a chromosome. Nd Photography. Home reference on genetics. Genetics Home Reference, January 27, 2014. Web. January 29. 2014. .