In this work we analysed three pathologies linked to a malfunction of SERCA pumps that gives birth to anomalies during muscles’ contraction. After giving a general view on how SERCA pumps work, we focused on three different pathologies. The conditions that we studied are a mutant form of zebrafish known as Accordion, PMT in Chianina cattle and human Brody’s disease. Considering these three models we could observe how all these pathologies are linked by a malfunction of the SERCA pumps. What is interesting for our study, after an overall observation of the pathologies, are the comparisons that could have been done. What we found out is that both Accordion mutant and PMT affected Chianina cattle could be very useful animal models in order to study Brody disease; surprisingly the same can not be said about another common animal model: mice. The conclusion of this study is focused on giving a hypothetical therapeutic approach that takes advance of the functional rescue of mutated SERCA1.

In this work we analysed three pathologies linked to a malfunction of SERCA pumps that gives birth to anomalies during muscles’ contraction. After giving a general view on how SERCA pumps work, we focused on three different pathologies. The conditions that we studied are a mutant form of zebrafish known as Accordion, PMT in Chianina cattle and human Brody’s disease. Considering these three models we could observe how all these pathologies are linked by a malfunction of the SERCA pumps. What is interesting for our study, after an overall observation of the pathologies, are the comparisons that could have been done. What we found out is that both Accordion mutant and PMT affected Chianina cattle could be very useful animal models in order to study Brody disease; surprisingly the same can not be said about another common animal model: mice. The conclusion of this study is focused on giving a hypothetical therapeutic approach that takes advance of the functional rescue of mutated SERCA1.

SERCA pump and related pathologies: comparative study of different animal models

NISTRI, FRANCESCA
2021/2022

Abstract

In this work we analysed three pathologies linked to a malfunction of SERCA pumps that gives birth to anomalies during muscles’ contraction. After giving a general view on how SERCA pumps work, we focused on three different pathologies. The conditions that we studied are a mutant form of zebrafish known as Accordion, PMT in Chianina cattle and human Brody’s disease. Considering these three models we could observe how all these pathologies are linked by a malfunction of the SERCA pumps. What is interesting for our study, after an overall observation of the pathologies, are the comparisons that could have been done. What we found out is that both Accordion mutant and PMT affected Chianina cattle could be very useful animal models in order to study Brody disease; surprisingly the same can not be said about another common animal model: mice. The conclusion of this study is focused on giving a hypothetical therapeutic approach that takes advance of the functional rescue of mutated SERCA1.
2021
SERCA pump and related pathologies: comparative study of different animal models
In this work we analysed three pathologies linked to a malfunction of SERCA pumps that gives birth to anomalies during muscles’ contraction. After giving a general view on how SERCA pumps work, we focused on three different pathologies. The conditions that we studied are a mutant form of zebrafish known as Accordion, PMT in Chianina cattle and human Brody’s disease. Considering these three models we could observe how all these pathologies are linked by a malfunction of the SERCA pumps. What is interesting for our study, after an overall observation of the pathologies, are the comparisons that could have been done. What we found out is that both Accordion mutant and PMT affected Chianina cattle could be very useful animal models in order to study Brody disease; surprisingly the same can not be said about another common animal model: mice. The conclusion of this study is focused on giving a hypothetical therapeutic approach that takes advance of the functional rescue of mutated SERCA1.
SERCA pump
Brody disease
PMT
Accordion mutant
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.12608/32841