HSN2 Mutations Lose Pain and Heat Perception

Hereditary sensory and autonomic neuropathy type II, abbreviated to HSANII, is a poorly understood genetic disorder wherein affected patients lose the ability to feel touch, pain, and heat.  Although it has been shown to be caused by mutations in a region of DNA known as HSN2, it was not known exactly what this region of DNA was for.  In a new study, Guy Roulaeu and colleagues, at the University of Montreal, Canada, have discovered that HSN2 is part of the gene WNK1, but it is only used to generate a protein in the nervous system; in other parts of the body, the gene WNK1 does not use the information in the HSN2 region of DNA to make protein.  Further analysis showed that the protein made using information contained in the HSN2 region of DNA (WNK1/HSN2) was found in mouse nerve cells that are vital for relaying sensory inputs such as touch and pain to the brain.  Future studies will focus on determining the molecular mechanisms by which WNK1/HSN2 is important for sensing touch, pain, and heat, the very senses lost in individuals with HSANII.

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