Paralytic (gene)

Paralytic
Identifiers
Symbol para
Alt. symbols bss, sbl, olfD, DmNav
Entrez 32619
UniProt P35500

Paralytic is a gene in the fruit fly Drosophila melanogaster which encodes a sodium channel.[1] Flies with mutant forms of paralytic are used in fly models of seizures, since seizures can be easily induced in these flies.[2]

Function

paralytic encodes a protein channel which transfers sodium ions and is activated in response to changes in the voltage across a membrane.[1]

Role in seizure models

Flies with certain mutations in paralytic are used as models for studying seizures and epilepsy, as they are much more prone to seizures than regular flies.[2] In these mutant flies, seizures can be induced by mechanical shock, electrical shock, or high-frequency visual stimuli such as strobe lights.

A number of mutations in paralytic have been described which can cause this increased sensitivity to seizures. Some of these, such as bss1 and bss2 can be caused by a single point mutation in the paralytic gene which makes the channel less able to inactivate itself after being activated.[2]

Human orthologs

The most closely-related genes to paralytic in humans are SCN8A and SCN2A, both of which encode sodium channels.[1] Mutations in the human orthologs have been linked to seizure disorders and cognitive defects.[3]

References

  1. 1 2 3 "Dmel\para". FlyBase. Retrieved 28 March 2017.
  2. 1 2 3 Parker L, Padilla M, Du Y, Dong K, Tanouye MA (February 2011). "Drosophila as a Model for Epilepsy: bss is a Gain-of-Function Mutation in the Para Sodium Channel Gene That Leads to Seizures". Genetics. 187 (2): 523–34. PMC 3030494Freely accessible. PMID 21115970. doi:10.1534/genetics.110.123299.
  3. Veeramah KR, O'Brien JE, Meisler MH, Cheng X, Dib-Hajj SD, Waxman SG, Talwar D, Girirajan S, Eichler EE, Restifo LL, Erickson RP, Hammer MF (March 2012). "De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP". American Journal of Human Genetics. 90 (3): 502–10. PMC 3309181Freely accessible. PMID 22365152. doi:10.1016/j.ajhg.2012.01.006.
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.