Facioscapulohumeral muscular dystrophy: Do neurotrophins play a role?

Francesco Angelucci, Luca Colantoni

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Although the molecular defect of facioscapulohumeral muscular dystrophy (FSHD) is well established and involves the contraction of the polymorphic 3.3 kb D4Z4 repeat on the subtelomeric region of chromosome 4q35, the pathologic effects of this deletion remain largely unknown. As a consequence, no specific treatment for FSHD is at present available. Thus, there is the need to explore new areas in an attempt to better characterize pathophysiological alterations in FSHD that might be useful for managing the disease. Neurotrophins (nerve growth factor, brain-derived neurotrophic factor, neurotrophin-3, and neurotrophin-4/5) are a class of proteins involved in the development, maintenance, and function of neurons of the peripheral and central nervous systems. In addition, neurotrophins and their RNAs are expressed in muscle, where they have a role in development and regeneration. In this article we put together the experimental evidence that indicates neurotrophins might be involved in the pathophysiology of FSHD and discuss the possible implications of this assumption.

Original languageEnglish
Pages (from-to)120-127
Number of pages8
JournalMuscle and Nerve
Volume41
Issue number1
DOIs
Publication statusPublished - Jan 2010

Fingerprint

Facioscapulohumeral Muscular Dystrophy
Nerve Growth Factors
Neurotrophin 3
Brain-Derived Neurotrophic Factor
Peripheral Nervous System
Nerve Growth Factor
Regeneration
Central Nervous System
Chromosomes
Maintenance
RNA
Neurons
Muscles
Proteins

Keywords

  • FSHD
  • Muscle development
  • Muscle regeneration
  • Neurotrophins

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Physiology (medical)
  • Cellular and Molecular Neuroscience

Cite this

Facioscapulohumeral muscular dystrophy : Do neurotrophins play a role? / Angelucci, Francesco; Colantoni, Luca.

In: Muscle and Nerve, Vol. 41, No. 1, 01.2010, p. 120-127.

Research output: Contribution to journalArticle

Angelucci, Francesco ; Colantoni, Luca. / Facioscapulohumeral muscular dystrophy : Do neurotrophins play a role?. In: Muscle and Nerve. 2010 ; Vol. 41, No. 1. pp. 120-127.
@article{4467c89ed90f493dac448653595162ac,
title = "Facioscapulohumeral muscular dystrophy: Do neurotrophins play a role?",
abstract = "Although the molecular defect of facioscapulohumeral muscular dystrophy (FSHD) is well established and involves the contraction of the polymorphic 3.3 kb D4Z4 repeat on the subtelomeric region of chromosome 4q35, the pathologic effects of this deletion remain largely unknown. As a consequence, no specific treatment for FSHD is at present available. Thus, there is the need to explore new areas in an attempt to better characterize pathophysiological alterations in FSHD that might be useful for managing the disease. Neurotrophins (nerve growth factor, brain-derived neurotrophic factor, neurotrophin-3, and neurotrophin-4/5) are a class of proteins involved in the development, maintenance, and function of neurons of the peripheral and central nervous systems. In addition, neurotrophins and their RNAs are expressed in muscle, where they have a role in development and regeneration. In this article we put together the experimental evidence that indicates neurotrophins might be involved in the pathophysiology of FSHD and discuss the possible implications of this assumption.",
keywords = "FSHD, Muscle development, Muscle regeneration, Neurotrophins",
author = "Francesco Angelucci and Luca Colantoni",
year = "2010",
month = "1",
doi = "10.1002/mus.21505",
language = "English",
volume = "41",
pages = "120--127",
journal = "Muscle and Nerve",
issn = "0148-639X",
publisher = "John Wiley and Sons Inc.",
number = "1",

}

TY - JOUR

T1 - Facioscapulohumeral muscular dystrophy

T2 - Do neurotrophins play a role?

AU - Angelucci, Francesco

AU - Colantoni, Luca

PY - 2010/1

Y1 - 2010/1

N2 - Although the molecular defect of facioscapulohumeral muscular dystrophy (FSHD) is well established and involves the contraction of the polymorphic 3.3 kb D4Z4 repeat on the subtelomeric region of chromosome 4q35, the pathologic effects of this deletion remain largely unknown. As a consequence, no specific treatment for FSHD is at present available. Thus, there is the need to explore new areas in an attempt to better characterize pathophysiological alterations in FSHD that might be useful for managing the disease. Neurotrophins (nerve growth factor, brain-derived neurotrophic factor, neurotrophin-3, and neurotrophin-4/5) are a class of proteins involved in the development, maintenance, and function of neurons of the peripheral and central nervous systems. In addition, neurotrophins and their RNAs are expressed in muscle, where they have a role in development and regeneration. In this article we put together the experimental evidence that indicates neurotrophins might be involved in the pathophysiology of FSHD and discuss the possible implications of this assumption.

AB - Although the molecular defect of facioscapulohumeral muscular dystrophy (FSHD) is well established and involves the contraction of the polymorphic 3.3 kb D4Z4 repeat on the subtelomeric region of chromosome 4q35, the pathologic effects of this deletion remain largely unknown. As a consequence, no specific treatment for FSHD is at present available. Thus, there is the need to explore new areas in an attempt to better characterize pathophysiological alterations in FSHD that might be useful for managing the disease. Neurotrophins (nerve growth factor, brain-derived neurotrophic factor, neurotrophin-3, and neurotrophin-4/5) are a class of proteins involved in the development, maintenance, and function of neurons of the peripheral and central nervous systems. In addition, neurotrophins and their RNAs are expressed in muscle, where they have a role in development and regeneration. In this article we put together the experimental evidence that indicates neurotrophins might be involved in the pathophysiology of FSHD and discuss the possible implications of this assumption.

KW - FSHD

KW - Muscle development

KW - Muscle regeneration

KW - Neurotrophins

UR - http://www.scopus.com/inward/record.url?scp=73949113478&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=73949113478&partnerID=8YFLogxK

U2 - 10.1002/mus.21505

DO - 10.1002/mus.21505

M3 - Article

C2 - 19813193

AN - SCOPUS:73949113478

VL - 41

SP - 120

EP - 127

JO - Muscle and Nerve

JF - Muscle and Nerve

SN - 0148-639X

IS - 1

ER -