Target paper Presentation drug discovery

Target paper Presentation drug discovery

1. Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis Yasuhiro Indo, Motoko Tsuruta , Yumi Hayashida , Mohammad Azharul Karim, Kohji Ohta , Tomoyasu Kawano, Hiroshi Mitsubuchi , Hidefumi Tonoki , Yutaka Awaya , and Ichiro Matsuda

2. Introduction Congenital sensory neuropathy with anhidrosis (CIPA) is also known as hereditary sensory and autonomic neuropathy (HSAN) type IV. The defects of pain and temperature sensations in CIPA are probably due to an almost complete absence of the first-order afferent system generally considered responsible for pain and temperature sensation. Electron microscopy studies reveal complete absence of small myelinated and unmyelinated fibers. Because t he genetic basis for CIPA was unknown Aim:  To examine the feature of CIPA in a genetic level.

3. Methods Three unrelated CIPA patients who had consanguineous parents were selected, and in which homozygous abnormalities could be expected. Part of the gene structure were detected.

4. Result

5. Result

6. Conclusion Our findings strongly suggest that defects in TRKA cause CIPA and that NGF-TRKA system has a crucial role in the development and function of the nociceptive reception as well as stablishment of thermoregulation via sweating in humans. These results also implicate genes encoding other TRK and neurotrophin family members as candidates for developmental efect (s) of the nervous system.

7. Limitations/critical analysis Poor structure organisation No subsections