Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases

Neuropsychiatric Disease and Treatment
Eva BagyinszkySangYun Kim

Abstract

Abnormal prion proteins are responsible for several fatal neurodegenerative diseases in humans and in animals, including Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker disease, and fatal familial insomnia. Genetics is important in prion diseases, but in the most cases, cause of diseases remained unknown. Several mutations were found to be causative for prion disorders, and the effect of mutations may be heterogeneous. In addition, different prion mutations were suggested to play a possible role in additional phenotypes, such as Alzheimer's type pathology, spongiform encephalopathy, or frontotemporal dementia. Pathogenic nature of several prion mutations remained unclear, such as M129V and E219K. These two polymorphic sites were suggested as either risk factors for different disorders, such as Alzheimer's disease (AD), variant CJD, or protease-sensitive prionopathy, and they can also be disease-modifying factors. Pathological overlap may also be possible with AD or progressive dementia, and several patients with prion mutations were initially diagnosed with AD. This review also introduces briefly the diagnosis of prion diseases and the issues with their diagnosis. Since prion diseases have quite heterogeneous ph...Continue Reading

Citations

Mar 29, 2019·International Journal of Molecular Sciences·Vo Van GiauSangYun Kim
Jan 19, 2020·Molecular Genetics & Genomic Medicine·Megan PiazzaBrian Appleby
Mar 4, 2020·International Journal of Molecular Sciences·Nina P TrubitsinaGalina A Zhouravleva
Mar 14, 2020·Journal of Neuropathology and Experimental Neurology·Shoko SadashimaToru Iwaki
Sep 26, 2020·Dementia & Neuropsychologia·Claudia RamosFrancisco Lopera
Aug 28, 2019·International Journal of Molecular Sciences·Vo Van GiauSeong Soo A An
Jul 26, 2019·International Journal of Molecular Sciences·Livia Bernardi, Amalia C Bruni
Sep 29, 2019·International Journal of Molecular Sciences·Vo Van GiauSangYun Kim
Jun 12, 2019·Scientific Reports·Vo Van GiauSang Yun Kim
Jan 5, 2019·Acta Neuropathologica Communications·Giuseppe Di FedeGiorgio Giaccone
Dec 18, 2020·Frontiers in Neurology·Eva ParobkovaRadoslav Matej
Dec 15, 2020·Epilepsy & Behavior : E&B·Gashirai K MbizvoAndrew J Larner
Jan 22, 2021·Cell Death and Differentiation·Julian M CarosiTimothy J Sargeant
Oct 24, 2020·International Journal of Molecular Sciences·Rodrigo Nunes AlvesMarilene Hohmuth Lopes
Mar 3, 2021·European Journal of Medicinal Chemistry·Sukriti SrivastavaSunil Kumar Khare
Nov 21, 2021·Neurochemical Research·Thuy Trang NguyenGiau Van Vo

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Methods Mentioned

BETA
glycosylation
exome sequencing

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