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Progetto vincitore della Borsa di Studio "Andrea Mezzetti" 2015

 

 

Study of miRNome to identify new molecular causes of Familial Hypercholesterolemia

Maria Donata Di Taranto

 

 

Abstract:


Background and rationale. Familial Hypercholesterolemia (FH) is a severe dyslipidaemia consisting in dramatically increased levels of LDL and total cholesterol leading to premature atherosclerosis.


FH is a monogenic disease caused by mutations in the genes encoding for the LDL receptor (LDLR) or in the gene encoding the only one apolipoprotein of LDL, the apolipoprotein B (APOB), or in the gene encoding a protease regulating LDLR levels on cell membrane (PCSK9). In around 20% of patients the genetic cause has not been identified. We hypothesize that the dyslipidemic profile could be caused by additional mechanisms including regulation of expression due to abnormal presence/sequence of regulatory miRNAs.


Objectives.
We propose to characterize the LDLR status and to study the miRNome of patients without mutations in the traditionally associated genes. Aim 1: Functional characterization and expression of LDLR. Aim 2: Identification of miRNA alterations.


Methods and research strategy.
Patients without mutations in LDLR, APOB, PCSK9 genes will be characterized assaying the functional activity and the expression (mRNA and protein) of LDLR. This characterization will allow to obtain different populations of patients with: 1. normal LDLR activity; 2. decreased activity with decreased expression of LDLR; 3. decreased activity with normal LDLR expression.


The miRNome analysis will be performed in order to identify: 1. altered levels of miRNAs with respect to healthy controls and 2. variants in the miRNA's sequence that could lead to altered binding to mRNAs. Results will be analysed in relation to the previous evaluation of activity/expression of LDLR, as example, miRNAs binding.


Expected results.
Results will allow to identify new players in the pathogenesis of FH that will be useful to 1. identify new molecular marker of FH and improve the diagnosis; 2. identify new target to improve the therapeutic approach of affected patients.


 

 

Progetto vincitore della Borsa di Studio “Andrea Mezzetti” - 2015

Risultati del progetto della Borsa di Studio "Andrea Mezzetti" 2015

 


 


Area Soci

Eventi

33° Congresso Nazionale


33° Congresso Nazionale

Roma, 24-26 novembre 2019
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Congresso congiunto SIIA umbro-marchigiana SISA Umbria 2019

Narni (TR), 2 Marzo 2019

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Spring Meeting Gruppi Giovani SIIA, SIMI, SISA 2019

Rimini,
28 febbraio - 2 marzo 2019

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EAS Advanced Course in Rare Lipid Disease

Cinisello B.mo (Mi), 19 Ottobre 2018

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Giornale Italiano Arteriosclerosi

Rivista in lingua italiana
riservata ai Soci S.I.S.A.
Ultimo numero:
Anno 9 • N.4/2018

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Rivista NMCD

Nutrition, Metabolism and Cardiovascular Diseases

Istruzioni per l'accesso online

IF 2017: 3.318


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