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Literature DB >> 23545419

Clinical and molecular features of POLG-related mitochondrial disease.

Jeffrey D Stumpf¹, Russell P Saneto, William C Copeland.

Abstract

The inability to replicate mitochondrial genomes (mtDNA) by the mitochondrial DNA polymerase (pol γ) leads to a subset of mitochondrial diseases. Many mutations in POLG, the gene that encodes pol γ, have been associated with mitochondrial diseases such as myocerebrohepatopathy spectrum (MCHS) disorders, Alpers-Huttenlocher syndrome, myoclonic epilepsy myopathy sensory ataxia (MEMSA), ataxia neuropathy spectrum (ANS), and progressive external ophthalmoplegia (PEO). This chapter explores five important topics in POLG-related disease: (1) clinical symptoms that identify and distinguish POLG-related diseases, (2) molecular characterization of defects in polymerase activity by POLG disease variants, (3) the importance of holoenzyme formation in disease presentation, (4) the role of pol γ exonuclease activity and mutagenesis in disease and aging, and (5) novel approaches to therapy and avoidance of toxicity based on primary research in pol γ replication.

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2013 PMID： 23545419 PMCID： PMC3683902 DOI： 10.1101/cshperspect.a011395

Source DB: PubMed Journal: Cold Spring Harb Perspect Biol ISSN： 1943-0264 Impact factor: 10.005

90 in total

1. Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

Authors: Eleonora Lamantea; Valeria Tiranti; Andreina Bordoni; Antonio Toscano; Francesco Bono; Serena Servidei; Alex Papadimitriou; Hans Spelbrink; Laura Silvestri; Giorgio Casari; Giacomo P Comi; Massimo Zeviani
Journal: Ann Neurol Date: 2002-08 Impact factor: 10.422

2. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

Authors: G Van Goethem; B Dermaut; A Löfgren; J J Martin; C Van Broeckhoven
Journal: Nat Genet Date: 2001-07 Impact factor: 38.330

3. Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome.

Authors: Sherine S L Chan; Matthew J Longley; Robert K Naviaux; William C Copeland
Journal: DNA Repair (Amst) Date: 2005-09-21

4. Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species production.

Authors: Aleksandra Trifunovic; Anna Hansson; Anna Wredenberg; Anja T Rovio; Eric Dufour; Ivan Khvorostov; Johannes N Spelbrink; Rolf Wibom; Howard T Jacobs; Nils-Göran Larsson
Journal: Proc Natl Acad Sci U S A Date: 2005-12-06 Impact factor: 11.205

Review 5. Pharmacology of nucleoside and nucleotide reverse transcriptase inhibitor-induced mitochondrial toxicity.

Authors: T N Kakuda
Journal: Clin Ther Date: 2000-06 Impact factor: 3.393

6. Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.

Authors: Emiliano González-Vioque; Alberto Blázquez; Daniel Fernández-Moreira; Belén Bornstein; Juan Bautista; Javier Arpa; Carmen Navarro; Yolanda Campos; Miguel A Fernández-Moreno; Rafael Garesse; Joaquin Arenas; Miguel A Martín
Journal: Arch Neurol Date: 2006-01

7. The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.

Authors: Sherine S L Chan; Matthew J Longley; William C Copeland
Journal: J Biol Chem Date: 2005-07-16 Impact factor: 5.157

8. Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.

Authors: Petri T Luoma; Ningguang Luo; Wolfgang N Löscher; Carol L Farr; Rita Horvath; Julia Wanschitz; Stefan Kiechl; Laurie S Kaguni; Anu Suomalainen
Journal: Hum Mol Genet Date: 2005-05-25 Impact factor: 6.150

9. Construction of transgenic mice with tissue-specific acceleration of mitochondrial DNA mutagenesis.

Authors: D Zhang; J L Mott; S W Chang; G Denniger; Z Feng; H P Zassenhaus
Journal: Genomics Date: 2000-10-15 Impact factor: 5.736

10. Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis.

Authors: Mikhail V Ponamarev; Matthew J Longley; Dinh Nguyen; Thomas A Kunkel; William C Copeland
Journal: J Biol Chem Date: 2002-03-15 Impact factor: 5.157

41 in total

1. Late-onset presentation of POLG1-associated mitochondrial disease.

Authors: Bruna Meira; Rafael Roque; Miguel Pinto; André Caetano
Journal: BMJ Case Rep Date: 2019-03-31

2. The Mitochondrial DNA Polymerase Promotes Elimination of Paternal Mitochondrial Genomes.

Authors: Zhongsheng Yu; Patrick H O'Farrell; Nikita Yakubovich; Steven Z DeLuca
Journal: Curr Biol Date: 2017-03-16 Impact factor: 10.834

3. Reversal of mitochondrial defects with CSB-dependent serine protease inhibitors in patient cells of the progeroid Cockayne syndrome.

Authors: Laurent Chatre; Denis S F Biard; Alain Sarasin; Miria Ricchetti
Journal: Proc Natl Acad Sci U S A Date: 2015-05-18 Impact factor: 11.205

4. Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation.

Authors: Adriana I Henao; Sonia Pira; Diego A Herrera; Sergio A Vargas; Jorge Montoya; Mauricio Castillo
Journal: Neuroradiol J Date: 2016-01-11

Review 5. Animal Mitochondrial DNA Replication.

Authors: G L Ciesielski; M T Oliveira; L S Kaguni
Journal: Enzymes Date: 2016-05-09

6. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype in a patient with a novel heterozygous POLG mutation.

Authors: Pankaj Prasun; Dwight D Koeberl
Journal: J Neurol Date: 2014-07-15 Impact factor: 4.849