Congenital Insensitivity to Pain with Anhidrosis (CIPA)

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Recommended: Treatments available for congenital insensitivity to pain

Congenital Insensitivity to Anhidrosis (or CIPA) is a rare genetic disease with the characteristics of not being able to feel any pain or temperature, and little or no sweating. It is inherited by an autosomal recessive pattern, meaning that both parents have a mutated NTRK1 gene, but they do not show any symptoms of CIPA. The damaged NTRK1gene produces proteins that cannot transmit signals. Since the neurons do not get any signals from the proteins, they perform 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 the nerves by their sweat glands, which leads to anhidrosis – lessened or no sweating. The purpose of this paper is to inform you about what CIPA is, what support there is for those who have it, and what research is going on about it. I chose to write about CIPA because I thought it was interesting and wanted to know more about it.
Congenital Insensitivity to Pain with Anhidrosis is a genetic disorder that is inherited by an autosomal recessive pattern. This means that both parents have a damaged NTRK1 gene, and they pass it on to their offspring. They themselves do not show any sign of CIPA, but this combination of the damaged genes activates it for their children and mutates eleven genes, which can lead to diseases. Since the NTRK1 gene is supposed to produce proteins needed for neurons (nerve cells) to develop and survive, but is damaged, it makes proteins that don’t transmit the signals (usually about temperature, pain, and touch).
CIPA is a disorder that consists of not being able to feel pain or temperature. Those with CIPA also experience anhidrosis, the ability to only sweat a little, or not at all....

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...Orphanet Journal of Rare Diseases. BioMed Central Ltd. Web. 29 Jan. 2014. .
Inouye, Dane. "Congenital Insensitivity to Pain with Anhidrosis." Honohu 6.4 (2008): n. pag. University of Hawaiʻi at Hilo Campus Center. University of Hawaiʻi at Hilo, 2008. Web. 30 Jan. 2014. .
McKusick, Victor A. "OMIM Entry # 256800 - INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA." Online Mendelian Inheritance in Man (OMIM). Ed. Cassandra L. Kniffin. John Hopkins University, 21 May 2009. Web. 30 Jan. 2014. .
NTRK1 Location on a Chromosome. N.d. Photograph. Genetics Home Reference. Genetics Home Reference, 27 Jan. 2014. Web. 29 Jan. 2014. .

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