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Repeated amplification of he6 nucleotides (GGGGCC) in chromosome 9 open reading box 72 (C9orf72) genes was found to be the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontal temporal lobe degeneration (FTLD).
at the neuropathological level, ALS and FLD are linked by cytocytologic aggregates in neurons and glial cells that contain the trans-reactive DNA binding protein 43kda (TDP-43).
this type of FLD is called FLD-TDP.
dipeptide repetition protein (DPR) derived from the repeated amplification of C9orf72 in neurons represents another neuropathological feature in patients with C9orf72 ALS and FLD-TDP.
asstar glial cells and small glial cells appear to lack DRR inclusions.
recently, ALS has become increasingly considered a multi-system disease.
study looked at the involvement of the lower pasal-pituitary axis.
, growth hormone (GH) deficiency in serum and cerebrospinal fluid in ALS patients was observed.
in Alzheimer's and Parkinson's disease, disease-related protein deposits were observed in different nuclei of the pituitary gland and hypothyroids, indicating that they were involved in neuroendocrine changes.
, we hypothesized that neuropathological lesions associated with ALS-and FLD-TDP in these regions may also be associated with the onerocrine disorder.
to address this hypothesis, we looked at whether there were pathological changes in phosphate TDP-43 (pTDP-43) and DRP in patients with ALS and/or FLD-TDP.
method: First, we studied the pituitary glycation of C9orf72 in 4 ALS patients and 1 FLD-TDP patient, 9 non-C9orf72 ALS patients and 12 control groups without neurodegenerative changes using immunogroupization.
all C9orf72 cases showed cytosome and intracellulogeneum polypolymer (GA) inclusions, while poly (GP) inclusions were less observed.
, the relative abundance of poly (GA) and poly (GP) is similar to that of other brain regions, indicating that the expression and aggregation processes of DRUs in the pituitary glybe are similar.
in the back of a case of C9orf72 amyotrophic lateral sclerosis, poly (GA) inclusions were observed in GFAP-positive cells (pituitary cells) and GFAP and IBA1-negative cells.
case C9orf72, adrenal corticosteroid (ACTH) positive was clearly visible in the middle leaf and showed pathological changes in poly (GA), expressed mainly through diffusion dyeing patterns.
DPRs, which are rich in arginine, are cross-reactive because chromosomal patterns similar to the hormone immune response have been observed.
pathology, pTDP-43 lesions were not found in the pituitary leaves of all study groups.
, DPR pathology is present in the endocrine and pituitary cells of the pituitary gland and in the nucleus of the cells stimulated by the pituitary hormone in the hemland.
future studies of lower papyroid-pituitary axis-related hormone levels in PATIENT patients with ALS and FLD-TDP, including C9orf72 amplification vectors, will help shed light on the clinical impact of our findings.
Dedene, L., Van Schoor, E., Ospitalieri, S. et al. Dipeptide protein repeat and TDP-43 pathology along the hypothalamic-pituitary axis in C9orf72 and non-C9orf72 ALS and FTLD-TDP cases. Acta Neuropathol 140, 777-781 (2020). MedSci Original Source: MedSci Original Copyright Notice: All text, images and audio and video materials on this website that indicate "Source: Mets Medicine" or "Source: MedSci Original" are owned by Mets Medicine and are not authorized to be reproduced by any media, website or individual, and are authorized to be reproduced with the words "Source: Mets Medicine".
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