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Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database
Anssi Nurminen1, Gregory A Farnum2, Laurie S Kaguni1,2
1Institute of Biosciences and Medical Technology, University of Tampere, Tampere, Finland.
BBA Clinical
|May 9, 2017
Summary
Researchers developed an online tool to predict the pathogenicity of mutations in the DNA polymerase gamma (POLG) gene, aiding in the diagnosis and understanding of mitochondrial diseases. This resource analyzes patient data to evaluate known and novel POLG mutations.
Area of Science:
- Genetics
- Molecular Biology
- Biochemistry
Background:
- Mitochondrial DNA (mtDNA) maintenance relies on DNA polymerase gamma (POLG).
- POLG dysfunction is a primary cause of mitochondrial diseases, encompassing syndromes like Alpers-Huttenlocher syndrome (AHS) and progressive external ophthalmoplegia (PEO).
- A wide spectrum of clinical presentations is associated with POLG-related disorders.
Purpose of the Study:
- To create a novel online server for analyzing POLG-related patient data.
- To evaluate the pathogenicity of reported and novel mutations in the POLG gene.
- To provide a valuable research and clinical tool for scientists and clinicians.
Main Methods:
- Compilation of all publicly available POLG-related patient data.
- Application of a pathogenic clustering model for data analysis.
- Development of an online server for mutation pathogenicity evaluation.
Main Results:
- Identified 176 unique point mutations in the POLG gene.
- Observed a near-uniform distribution of mutations along the POLG gene sequence.
- Determined that most POLG mutations are recessive, with dominant mutations clustering in the polymerase active site.
Conclusions:
- The POLG Pathogenicity Prediction Server offers a centralized resource for POLG mutation information.
- The server aids in understanding the pathogenicity of POLG mutations for clinical and research purposes.
- This tool enhances the study and management of POLG-related mitochondrial disorders.
Keywords:
AHS, Alpers-Huttenlocher syndromeANS, Ataxia neuropathy spectrumDNA polymerase gammaIP, Intrinsic processivity subdomain of POLGA spacer-domainMCHS, Childhood myocerebrohepatopathy spectrumMEMSA, Myoclonic epilepsy myopathy sensory ataxiaMitochondrial disorderMutation databasePDB ID, Four-character identification code for a protein structure in the RSCB PDB databasePEO, Progressive external ophthalmoplegiaPNF, Putatively non-functional enzymePOLG syndromePOLG, DNA polymerase gammaPOLGA, Catalytic subunit of DNA polymerase gammaPOLGB, Accessory subunit of DNA polymerase gammaPathogenicity predictionPatient databaseSNP, Single nucleotide polymorphism/non-pathogenic mutation
