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If you have found the information provided by the POLG Pathogenicity Prediction Server useful, please cite the following article in your work.

Abstract

Pathogenicity in POLG Syndromes: DNA Polymerase Gamma Pathogenicity Prediction Server and Database

Anssi Nurminen1, Gregory A. Farnum2 and Laurie S. Kaguni1,2

1Institute of Biosciences and Medical Technology, University of Tampere, Tampere, Finland
2Department of Biochemistry and Molecular Biology and Center for Mitochondrial Science and Medicine, Michigan State University, East Lansing, Michigan, USA

Keywords: POLG, POLG2, DNA polymerase gamma, mitochondrial disorder, POLG syndrome, pathogenicity prediction, patient database, mutation database, Pol γ

DNA polymerase gamma (POLG) is the replicative polymerase responsible for maintaining mitochondrial DNA (mtDNA). Disorders related to its functionality are a major cause of mitochondrial disease. The clinical spectrum of POLG syndromes includes Alpers-Huttenlocher syndrome (AHS), childhood myocerebrohepatopathy spectrum (MCHS), myoclonic epilepsy myopathy sensory ataxia (MEMSA), the ataxia neuropathy spectrum (ANS) and progressive external ophthalmoplegia (PEO). We have collected all publicly available POLG-related patient data and analyzed it using our pathogenic clustering model to provide a new research and clinical tool in the form of an online server. The server evaluates the pathogenicity of both previously reported and novel mutations. There are currently 180 unique point mutations reported and found in mitochondrial patients in the gene encoding the catalytic subunit of POLG, POLG. The mutations are distributed nearly uniformly along the length of primary amino acid sequence of the gene. Our analysis shows that most of the mutations are recessive, and that the reported dominant mutations cluster within the polymerase active site in the tertiary structure of the POLG enzyme. The POLG Pathogenicity Prediction Server (http://polg.bmb.msu.edu) is targeted at clinicians and scientists studying POLG disorders, and aims to provide the most current available information regarding the pathogenicity of POLG mutations.

Full Article, BBA Clinical, Volume 7, June 2017, Pages 147–156.

Cluster information references

Euro L., Farnum GA., Palin E., Suomalainen A., Kaguni LS. (2011) Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ. Nucleic Acids Res., 39, 9072-84.

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Farnum GA., Nurminen A., Kaguni LS. (2014) Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes. Biochim Biophys Acta., 1837, 1113-21.

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Pathogenicity prediction for non-cluster-mapping mutations

Niroula A, Urolagin S, Vihinen M. (2015) PON-P2: prediction method for fast and reliable identification of harmful variants. PLoS One., 10, e0117380.

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Clinical papers
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