preview

The Genetic Disease And Disorders

Better Essays
Cellular Biology Paper There are many genetic diseases and disorders in the world these days, some of which are stranger or more unique then others. One such unique genetic disease is Congenital Insensitivity to Pain with Anhidrosis or CIPA for short. This particular genetic disease causes people who have to it to not be able to feel pain or even differentiated between hot or cold. As well as be unable to sweat, because of the anhidrosis. This genetic condition is also known as hereditary sensory and autonomic neuropathy type IV, but in this paper it will only be referred to as CIPA. Congenital insensitivity to pain with anhidrosis, CIPA, is an inherited disorder of the nervous system, which causes people to have to be unable to have…show more content…
It is very difficult for them because they have to be constantly checking them selves to make sure that they haven’t been cut or injured, especially in the mouth area and their limbs. The odds of someone being born with this condition are about 1 in 125 million. So it is definitely not a very common condition that many doctors would see. Doctors have however been able to identify the gene mutation responsible for causing CIPA, it is the gene encoding the Neurotrophic Tyrosine-Kinase receptor (NTRK1 gene). It is mutated in a way that interferes and halts the autophosphorylation process, therefore stopping signals of pain and temperature from being sent to the brain. The neurotrophic Tyrosine-Kinase, receptor, type 1 gene (NTRK1) is actually a very important gene in the human body. It is the main gene that provides the instructions for making certain proteins (NTRK1 proteins) that are essential for the development and survival of nerve cells. Especially the ones that transmit the information that is sent for pain, temperature and touch (sensory neurons). Sensory neurons are often found with the NTRK1 protein on them, this is because they act as a kinase; which is a type of enzyme that catalyzes the transfer of oxygen and phosphate groups to proteins, which is called phosphorylation. NTRK1 activated when nerve growth factor beta (NGFβ) binds to it and singles the
Get Access