دانلود رایگان مقاله لاتین تغییر آمیلوئیدوز از سایت الزویر
عنوان فارسی مقاله:
زمینه ژنتیکی تغییر آمیلوئیدوز در مدل موش نوروپاتی ATTR
عنوان انگلیسی مقاله:
Genetic background modifies amyloidosis in a mouse model of ATTR neuropathy
سال انتشار : 2016
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مقدمه انگلیسی مقاله:
1. Introduction
Familial amyloidotic neuropathy (FAP) Type I is an autosomal dominant sensorimotor neuropathy due to amyloid deposition in which the main polypeptide component is transthyretin (TTR). Mutation of valine to methionine at position 30 is the commonest variant hence it is named ATTRV30M neuropathy. Penetrance and age of onset of ATTRV30M neuropathy varies significantly among different populations. Penetrance in Sweden, Cyprus and Portugal is 2%, 28% and 80% while the age of onset is 52, 46 and 32 years respectively [1]. This country-specific variability in penetrance is unusual for an autosomal dominant disease caused by an identical mutation and has been attributed to genetic and environmental modifiers [2–4]. We investigated the effect of genetic background on TTR amyloidosis using two different genetic backgrounds of a transgenic mouse model of ATTRV30M amyloid neuropathy. The mice were null for the endogenous TTR and homozygous for the human ATTRV30M mutation, one on a 129 1/SvJ background and the other on a mixed 129 1/SvJ/C57BL/6J background. Both genetic backgrounds had the same human transgene copy number and a similar number of RNA transcripts in liver tissue, the main site of TTR synthesis. We carried out a semi-quantitative comparison of TTR amyloid deposition and of megalin and clusterin expression, both of which are increasingly recognized for their role in tissue handling of amyloidogenic peptides [5–9]. In addition, a number of molecular markers involved in ATTRV30M disease pathogenesis were assessed including BiP (endoplasmic reticulum stress), ubiquitin (ubiquitin-proteasome system), Fas and Caspase 3 (apoptosis) and C5b9 (complement activation). We demonstrate that cross-bred 129 1/SvJ/C57BL/6J mice exhibit significantly less amyloid deposition and secondary disease markers which are associated with significantly higher megalin and clusterin up-regulation. Thus genetic background does appear to modulate amyloidogenesis in the ATTRV30M neuropathy model and a number of players involved in misfolded protein handling may be involved.
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کلمات کلیدی:
C1q ablation exacerbates amyloid deposition: A study in ... - PLoS ONE journals.plos.org/plosone/article?id=10.1371/journal.pone.0175767 by E Panayiotou - 2017 Apr 13, 2017 - ATTRV30M amyloid neuropathy is a lethal autosomal dominant ... a double transgenic mouse model of ATTRV30M amyloid neuropathy in ... Primers for the mouse TTR gene (mTTR F 5'—CTG ACC CAT TTC ACT GAC ATT ... The role of complement in ATTR amyloidosis: a new ... - NCBI https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4642124/ by E Panayiotou - 2015 Nov 2, 2015 - The role of complement in ATTR amyloidosis: a new therapeutic avenue? ... ATTRMet30 neuropathy exhibits a great degree of variability, both in the age of ... In the mouse model of Alzheimer disease, C1q has been shown to ... C1q ablation exacerbates amyloid deposition: A study in ... - NCBI - NIH https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5391113/ by E Panayiotou - 2017 Apr 13, 2017 - ... in a transgenic mouse model of ATTRV30M amyloid neuropathy .... for the mouse TTR gene (mTTR F 5'—CTG ACC CAT TTC ACT GAC ATT ... Animal models of human amyloidoses: Are transgenic mice worth the ... https://www.ncbi.nlm.nih.gov › NCBI › Literature › PubMed Central (PMC) by JN Buxbaum - 2009 - Cited by 16 - Related articles Jul 20, 2009 - On the molecular level we can study the attributes of folding and misfolding in infinite ... Murine Models of the Human Amyloidoses ..... copies of the human gene, but still did not display peripheral or autonomic neuropathy. Amyloidosis: Diagnosis and Treatment https://books.google.com/books?isbn=1607616319 Morie A. Gertz, S. Vincent Rajkumar - 2010 - Medical The first reports of amyloid deposits in the peripheral nervous system and ... the efficacy of diflunisal in ATTR patients with neuropathy as the major endpoint. ... When tested in vivo in a mouse model of ATTR, administration of doxycycline to ... Download PDF - Orphanet Journal of Rare Diseases - BioMed Central https://ojrd.biomedcentral.com/track/pdf/10.1186/1750-1172-10-S1-P3?site=ojrd... by E Panayiotou - 2015 Nov 2, 2015 - aberrant transthyretin (TTR) protein (ATTR neuropathy). A substitution of ... A transgenic mouse model of ATTRMet30 was cross bred with a ... Pharmacological Stimulation of Phagocytosis Enhances Amyloid ... journal.frontiersin.org/article/10.3389/fnmol.2017.00138/full Apr 21, 2017 - Hereditary ATTR V30M amyloidosis is a lethal autosomal dominant ... Evidence from a Transgenic Mouse Model of ATTR Neuropathy. XIth International Symposium on Amyloidosis https://books.google.com/books?isbn=1420043358 Martha Skinner, John L. Berk, Lawreen H. Connors - 2007 - Medical Amyloidosis AA, 45–48 decorin in, 36–38 FK506 inhibition of, 99–101 HDL and, ... 327–329 localized, 330–332, 336–338 mouse model, 321–323 NT-ProBNP, ... 143–145 ATTR (See ATTR) cardiac, 154–156, 157–159 cardiomyopathy and, ... model) N-glycosylation sites in, somatic mutations and, 292–294 neuropathy and ...
