Iovane, Valentina (2011) A SPONTANEOUS MOUSE MODEL OF X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY. [Tesi di dottorato] (Unpublished)

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Item Type: Tesi di dottorato
Language: English
Title: A SPONTANEOUS MOUSE MODEL OF X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY
Creators:
CreatorsEmail
Iovane, Valentinavale.iovane@gmail.com
Date: 30 November 2011
Number of Pages: 57
Institution: Università degli Studi di Napoli Federico II
Department: Strutture, funzioni e tecnologie biologiche
Doctoral School: Scienze veterinarie per la produzione e la sanità
PHD name: Organismi modello nella ricerca biomedica e veterinaria
PHD cycle: 24
PHD Coordinator:
nameemail
De Girolamo, Paolodegirola@unina.it
Tutor:
nameemail
Papparella, Serenellapapparel@unina.it
Paciello, Orlandopaciello@unina.it
Date: 30 November 2011
Number of Pages: 57
Uncontrolled Keywords: X-Linked Vacuolar myopathy with Excessive Autophagy, Autophagy, muscle, mouse model
MIUR S.S.D.: Area 07 - Scienze agrarie e veterinarie > VET/03 - Patologia generale e anatomia patologica veterinaria
Date Deposited: 09 Dec 2011 11:11
Last Modified: 30 Apr 2014 19:48
URI: http://www.fedoa.unina.it/id/eprint/8824

Abstract

the subject of the thesis research project, aims to characterize a murine model for spontaneous muscle pathology comparable to human "X-Linked Vacuolar myopathy with Excessive Autophagy (XMEA)". Along with Danon disease, these myopathies are characterized by the accumulation of vacuoles within the myofiber. In 1988, Kalimo et al. have described five cases (all males) who had progressive proximal myopathy, which did not involve the heart muscle. The muscle biopsies of all patients showed numerous vacuoles, sarcoplasmic and subsarcolemmal, many of which were positive for the lysosomal enzyme, for the morphological appearance described, was proposed the term: X-Linked Vacuolar myopathy with Excessive Autophagy (XMEA). We used crosses of strain C57/BL6 mice of different ages and sex, we processed triceps muscles, quadriceps femoris and the cranial tibial muscle and made morphological, histochemical and immunohistochemical staining on this samples. From laboratory tests performed on muscle biopsies, we found the presence of numerous vacuoles within muscle fibers, only in males. All these characters are comparable to XMEA. The availability of a well characterized mouse model it may help define the etiopathogenesis of this disease.

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