Findings in the Area of Epilepsy Reported from Haukeland University Hospital (The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations)
By a News Reporter-Staff News Editor at Genomics & Genetics Weekly Current study results on Central Nervous System Diseases and Conditions - Epilepsy have been published. According to news reporting out of Bergen, Norway, by NewsRx editors, research stated, "PurposeMutations in POLG, the most common single-gene cause of inherited mitochondrial disease, are diagnostically challenging owing to clinical heterogeneity and overlap between syndromes. We aimed to improve the clinical recognition of POLG-related disorders in the pediatric population.MethodsWe performed a multinational, phenotype: genotype study using patients from three centers, two Norwegian and one from the United Kingdom."
Our news journalists obtained a quote from the research from Haukeland University Hospital, "Patients with age at onset <12 years and confirmed pathogenic biallelic POLG mutations were considered eligible.ResultsA total of 27 patients were identified with a median age at onset of 11 months (range 0.6-80.4). The majority presented with global developmental delay (n=24/24, 100%), hypotonia (n=22/23, 96%) and faltering growth (n=24/27, 89%). Epilepsy was common, but notably absent in patients with the myocerebrohepatopathy spectrum phenotype. We identified two novel POLG gene mutations.ConclusionOur data suggest that POLG-related disease should be suspected in any child presenting with diffuse neurological symptoms. Full POLG sequencing is recommended since targeted screening may miss mutations."
According to the news editors, the research concluded: "Finally, we simplify the classification of POLG-related disease in children using epilepsy as the crucial defining element; we show that Alpers and myocerebrohepatopathy spectrum follow different outcomes and that they manifest different degrees of respiratory chain dysfunction.GENETICS in MEDICINE advance online publication, 4 May."
For more information on this research see: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations. Genetics In Medicine, 2017;():. (Nature Publishing Group - www.nature.com/; Genetics In Medicine - www.nature.com/gim/)
Our news journalists report that additional information may be obtained by contacting O. Hikmat, Dept. of Pediatrics, Haukeland University Hospital, Bergen, Norway. Additional authors for this research include C. Tzoulis, W.K. Chong, L. Chentouf, C. Klingenberg, C. Fratter, L.J. Carr, P. Prabhakar, N. Kumaraguru, P. Gissen, J.H. Cross, T.S. Jacques, J.W. Taanman, L.A. Bindoff and S. Rahman (see also Central Nervous System Diseases and Conditions - Epilepsy).
Keywords for this news article include: Bergen, Norway, Europe, Epilepsy, Genetics, Polymerase, Enzymes and Coenzymes, Brain Diseases and Conditions, Central Nervous System Diseases and Conditions.
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