POLG Resources


Background Info on POLG

Start here for a baseline understanding.

Then read this when you are ready for something slightly more technical.

Level up! This is the next step in technical literature.



Academic Articles on POLG

This is a great, in-depth academic description of types of POLG diseases: http://cshperspectives.cshlp.org/content/5/4/a011395.full

An OMIM literature review for POLG: http://omim.org/entry/174763

This reference list includes a lot of articles on specific case studies and particular gene mutations: http://polg.bmb.msu.edu/references.php



POLG Databases

This database put together by Bill Copeland at the National Institute of Health allows you to input the specific POLG mutations and see a list of all the specific cases that have been reported with that mutation, including info on the other involved mutation(s), specific disease class, and type of symptoms. https://tools.niehs.nih.gov/polg/

This database is out of Michigan State University. Input your mutations and you can see where on the POLG gene the mutatuions lie, info on how common these mutations are among the mito patient population, and predictions about which mutation is thought to be dominant. If you have one or more rare mutations (Evie has one that’s relatively common and one that is rare), try emailing the database operators by using the “Contact” form at the top of the page. They responded to my email right away and gave me some really helpful feedback. http://polg.bmb.msu.edu/query.php



Doctors specializing in POLG:

Bruce Cohen

Russell Saneto



Researchers specializing in POLG:

Bill Copeland

Phone: 919-541-4792

Email: copelan1@niehs.nih.gov

Mailing address: P.O. Box 12233, Mail Drop E3-01, Durham, N.C. 27709



And finally… here’s the POLG protein sequence set to music!