Search results for "Dystrophy"

Myelin Proteome Analysis: Methods and Implications for the Myelin Cytoskeleton

2012

Myelin, the multilayered membrane that enwraps and insulates neuronal axons for fast signal propagation, is a plasma membrane specialization of oligodendrocytes and Schwann cells in the central and peripheral nervous system, respectively. Here we provide our lab protocols for the puri fi cation of myelin from mouse brains and for gel-based and gel-free proteomic applications, as well as a brief discussion with respect to our current knowledge of the myelin cytoskeleton.

MicroRNA-Based Therapeutic Perspectives in Myotonic Dystrophy

2019

Myotonic dystrophy involves two types of chronically debilitating rare neuromuscular diseases: type 1 (DM1) and type 2 (DM2). Both share similarities in molecular cause, clinical signs, and symptoms with DM2 patients usually displaying milder phenotypes. It is well documented that key clinical symptoms in DM are associated with a strong mis-regulation of RNA metabolism observed in patient’s cells. This mis-regulation is triggered by two leading DM-linked events: the sequestration of Muscleblind-like proteins (MBNL) and the mis-regulation of the CUGBP RNA-Binding Protein Elav-Like Family Member 1 (CELF1) that cause significant alterations to their important functions in RNA processing. It ha…

A Review of Psychopathology Features, Personality, and Coping in Myotonic Dystrophy Type 1.

2018

International audience; Background: The last literature review on psychopathological features in Myotonic Dystrophy type 1 had been conducted by Ambrosini and Nurnberg in 1979. Since that date, many researches had been carried out.Objective: The aim of this study is (i) to systematically obtain and evaluate the relevant literature on psychopathological features, personality, and coping in individuals with adult phenotypes of Myotonic Dystrophy type 1. (ii) To summarize current research findings and draw conclusions for future research.Methods: A systematic search was conducted on Pubmed, PubPsych, PsycInfo, Science Direct, and Scopus covering the period of January 1979 to July 2017.Results:…

Early and late clinical landmarks of corneal dystrophies

2020

Abstract Corneal dystrophies (CDs) represent a heterogenous group of genetic diseases (Lisch and Weiss, 2019). The International Committee of Classification of Corneal Dystrophies (IC3D) distinguishes between 22 distinct forms of corneal dystrophy (CD) which are predominantly autosomal dominant, although autosomal recessive and X-chromosomal dominant and recessive patterns do exist. A detailed corneal examination of as many affected family members as possible can show the phenotypic differences of the various generations. There are few publications which describe the different CDs with regard to the early and late phenotypes. According to early and late phenotype, three types of CD are gene…

Crystalline subtype of pre-descemetic corneal dystrophy.

2014

Purpose: To report corneal findings in a familial case of the crystalline subtype of pre- Descemetic corneal dystrophy. Case Report: A 19-year-old girl and her 44-year-old mother were found to have asymptomatic, bilateral, punctiform and multi-colored crystalline opacities across the whole posterior layer of the corneas. Endothelial specular microscopy revealed the presence of white round flecks located at different levels anterior to the endothelium. No systemic abnormalities or medications could be related to account for these findings. Conclusion: To the best of our knowledge, this is the third familial report of this rare corneal disorder. Differential diagnosis may include Schnyder cor…

Recovery of damaged skeletal muscle in mdx mice by low-intensity endurance exercise

2010

Rat adrenoleukodystrophy-related (ALDR) gene: full-length cDNA sequence and new insight in expression.

2001

X-linked adrenoleukodystrophy (X-ALD) is an inherited demyelinating disorder due to mutations in the ALD gene, which encodes a peroxisomal ABC half-transporter (ALDP). It has been suggested that ALDP assembles with ALDRP (adrenoleukodystrophy-related protein), a close homologous half-transporter, to form a functional heterodimer. For the first time full-length ALDRP cDNA (5.5 kb) was cloned, and 5' and 3' RACE analysis revealed that alternative usage of polyadenylation sites generates the two transcripts of 3.0 and 5.5 kb observed in the rat in Northern blot analysis. Southern blotting and chromosomal mapping demonstrated one ALDR locus in the rat genome. Characterisation of the 3' flanking…

Morphology of Skeletal Muscle

2013

Skeletal muscle makes up the largest organ of the body, by both volume and weight, comprising more than 40 %. More than 500 diseases concern muscle tissue, the majority of which originate in muscle, others secondarily affect the muscle, foremost by denervation. The functional and structural dependence of skeletal muscle on innervation—that is, the peripheral and central nervous systems—renders muscle tissue unique and adds a dimension to the nosology, more obviously than in other organs. Therefore, diseases affecting muscle are also termed neuromuscular diseases. Within the nosological spectrum of the muscle parenchyma, which encompasses hereditary and acquired conditions, muscular dystroph…

In vivo strategies for drug discovery in myotonic dystrophy disorders.

2013

Myotonic dystrophy (DM) is a complex neuromuscular genetic disease for which there is currently no valid therapy. The recent development of non-mammal animal models opened up the possibility of performing drug discovery in vivo, using as screening readout phenotypes with underlying molecular parallels to the disease. In this review we discuss the state of the art technologies already used in large scale drug screening and provide guidance for further development of novel technologies.

TEMPORAL STRUCTURE OF THE MUSCULAR DYSTROPHY X-LINKED MOUSE BEHAVIOUR TESTED IN OPEN FIELD

2017

In comparison with wilde type mice, animal models of Duchenne Muscolar Dystrophy (mdx mice) show a different behavioral organization with a more articulated structure of the temporal patterns. Present study sheds light, for the first time, on specific temporal features of behavior in an animal model of DMD.