|
Mitochondrial Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
Infectious stress triggers a POLG-related mitochondrial disease.
|
31655921 |
2020 |
|
Mitochondrial Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
Among adult POLG1-associated mitochondrial disease, the main clinical feature is chronic progressive external ophthalmoplegia.
|
30936349 |
2019 |
|
Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
POLG mutations are the most common cause of inherited mitochondrial disorders, with as many as 2% of the population carrying these mutations.
|
30451971 |
2019 |
|
Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Subsequent Sanger sequencing of POLG in a further 275 unrelated probands with genetically unconfirmed mitochondrial disease revealed a third unrelated proband with a similar phenotype harboring homozygous c.1879C>T; p.R627W mutations and a fourth patient, with a milder clinical disorder, harboring compound heterozygous POLG c.1879C>T; p.R627W and c.2341G>A; p.A781T mutations.
|
31425757 |
2019 |
|
Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
PurposeMutations in POLG, the most common single-gene cause of inherited mitochondrial disease, are diagnostically challenging owing to clinical heterogeneity and overlap between syndromes.
|
28471437 |
2017 |
|
Mitochondrial Diseases
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
|
Mitochondrial Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
POLG1 encodes mitochondrial DNA polymerase and is one of the causative genes for a Mendelian-inheritance mitochondrial disease, which is occasionally accompanied by mood disorders.
|
27987238 |
2017 |
|
Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in POLG have been linked to a spectrum of clinical phenotypes, resulting in autosomal recessive or dominant mitochondrial diseases.
|
28130605 |
2017 |
|
Mitochondrial Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
Normal muscle and fibroblast studies do no exclude the diagnosis of POLG-related mitochondrial disease and direct sequencing of the POLG gene should be the gold standard when investigating suspected cases.
|
27554452 |
2016 |
|
Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Diseases due to mutations of POLG gene, encoding the mitochondrial DNA polymerase, are reputed to have very diverse clinical presentations and have been proposed to cause up to 25% adult mitochondrial diseases.
|
25118206 |
2015 |
|
Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
We identified a mitochondrial disease causing missense variation in polymerase domain of POLG1 protein at amino acid 1143 (E1143G) to be 25 times more prevalent in European-Americans (allele frequency 0.03777) when compared to African-American (allele frequency 0.00151) population.
|
26468652 |
2015 |
|
Mitochondrial Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
Clinical diagnosis of POLG-related disorders can be challenging because the phenotypic spectrums are heterogeneous which can mimic different types of mitochondrial disorders.
|
26169155 |
2015 |
|
Mitochondrial Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
Fatal human herpesvirus 6-associated encephalitis in two boys with underlying POLG mitochondrial disorders.
|
25160553 |
2014 |
|
Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
An analysis of the POLG1 gene should be performed for all patients with suspected mitochondrial disease before the introduction of valproate therapy, and treatment with valproic acid should be avoided in these patients.
|
25065347 |
2014 |
|
Mitochondrial Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
Genes encoding the DNA helicase TWINKLE (C10orf2) or the two subunits of mtDNA polymerase γ (POLγ) (POLG1 and POLG2) have a direct effect on the mitochondrial DNA replication machinery and were reported in many mitochondrial disorders.
|
24011957 |
2014 |
|
Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Our clustering method provides a powerful tool to predict the pathogenic potential and predicted disease phenotype of novel variants and mutations in POLG, the most common nuclear gene underlying mitochondrial disorders.
|
24508722 |
2014 |
|
Mitochondrial Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
Distal upper limb myopathy/cachexia is not previously described with dominant POLG mutations and our observations further highlight the diverse clinical spectrum of POLG-related mitochondrial disorders.
|
22933815 |
2013 |
|
Mitochondrial Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
The aim of this study was to determine the prevalence of POLG mutations in an adult population of Australian patients with mitochondrial disease, displaying symptoms commonly associated with POLG-related diseases.
|
22647225 |
2013 |
|
Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Our findings suggest that the presence of HOD, in the appropriate clinical setting, should alert the clinician to the possibility of a mitochondrial disorder and the need to screen for mutations in POLG and SURF1 genes.
|
22729384 |
2013 |
|
Mitochondrial Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
The combinatorial analyses of mtDNA and POLG revealed a diagnostic yield of 6.7% in patients with suspected mitochondrial disorders but no recognizable syndromes.
|
23463613 |
2013 |
|
Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
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).
|
23545419 |
2013 |
|
Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
(1) Mitochondrial disorders(2) are a well-recognized cause; however, to our knowledge this is the first time that such extensive intracranial calcium deposits have been described in a patient with a POLG1 mutation.
|
23836942 |
2013 |
|
Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in POLG account for one of the most frequent nuclear encoded causes of mitochondrial disorders to date.
|
22405928 |
2012 |
|
Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mitochondrial disorder was clinically suspected and a homozygous c.2243G>C mutation (p.Trp748Ser) was discovered in the POLG1 gene.
|
23248042 |
2012 |
|
Mitochondrial Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Alpers syndrome is one of the most common phenotypes of mitochondrial disorders in early childhood and has been associated with pathogenic mutations in POLG1.
|
22237560 |
2012 |