Prions

Intracellular aggregates of phosphorylated TDP-43 are a major component of ubiquitin-positive inclusions in brains of patients with frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS), and are considered a pathological hallmark. Here, to gain insight into the mechanism of intracellular TDP-43 accumulation, we examined the relationship between phosphorylation and aggregation of TDP-43. We found that expression of hyperactive form of casein kinase 1 delta (CK1δ1-317: a C-terminally truncated form) promotes mislocalization and cytoplasmic accumulation of phosphorylated TDP-43 (ubiquitin- and p62-positive) in cultured neuroblastoma SH-SY5Y cells. Insoluble phosphorylated TDP-43 prepared from cells co-expressing TDP-43 and CK1δ1-317 functioned as seeds for TDP-43 aggregation in cultured cells, indicating that CK1δ1-317-induced aggregated TDP-43 has prion-like properties. Striking toxicity and alterations of TDP-43 were also observed in yeast expressing TDP-43...

The term “epigenetics” is critically analyzed basing on the differential concept of variability. A strict definition of epigenetic processes is proposed. The widely accepted tradition to oppose the words “genetic” and “epigenetic” is shown to be incorrect. An adequate antonym for the term “epigenetics” is proposed. Optimization of current genetic terminology due to epigenetics redefining is discussed.

The aim of the present study was to identify the deletion/insertion polymorphism of the bovine prion protein gene (PRNP) within the promoter sequence (23 bp), intron 1 (12 bp) and 3’ untranslated region (14 bp). DNA was isolated from blood of 234 randomly tested Polish Holstein-Friesian cows and from semen of 47 sires used for artificial insemination (AI) in 2004. No statistically significant differences were found in the frequency of genotypes and alleles between cows and breeding bulls in the 3 analysed polymorphic sites within thePRNP gene. Only 3 haplotypes were identified in sires and 4 haplotypes in cows.