Molecular mechanisms and animal models of spinal muscular atrophy

Brittany M. Edens; Senda Ajroud-Driss; Long Ma; Yong Chao Ma

doi:10.1016/j.bbadis.2014.07.024

Molecular mechanisms and animal models of spinal muscular atrophy

Brittany M. Edens, Senda Ajroud-Driss, Long Ma, Yong Chao Ma^*

^*Corresponding author for this work

Research output: Contribution to journal › Review article › peer-review

40 Scopus citations

Abstract

Spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, is characterized by the degeneration of spinal motor neurons and muscle atrophy. Although the genetic cause of SMA has been mapped to the Survival Motor Neuron1 (SMN1) gene, mechanisms underlying selective motor neuron degeneration in SMA remain largely unknown. Here we review the latest developments and our current understanding of the molecular mechanisms underlying SMA pathogenesis, focusing on the animal model systems that have been developed, as well as new diagnostic and treatment strategies that have been identified using these model systems. This article is part of a special issue entitled: Neuromuscular Diseases: Pathology and Molecular Pathogenesis.

Original language	English (US)
Pages (from-to)	685-692
Number of pages	8
Journal	Biochimica et Biophysica Acta - Molecular Basis of Disease
Volume	1852
Issue number	4
DOIs	https://doi.org/10.1016/j.bbadis.2014.07.024
State	Published - Apr 1 2015

Funding

The authors would like to thank Drs. Nimrod Miller and Zhihua Feng for assistance with making figures. B.M.E. and Y.C.M. are supported by the Schweppe Foundation, Whitehall Foundation, Families of SMA and NIH grant AG043970 .

Keywords

Animal disease models
C. elegans
Drosophila
SMA
SMN
Zebrafish

ASJC Scopus subject areas

Molecular Medicine
Molecular Biology

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1016/j.bbadis.2014.07.024

Cite this

@article{814817e2303b44d79720f53be90bb450,

title = "Molecular mechanisms and animal models of spinal muscular atrophy",

abstract = "Spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, is characterized by the degeneration of spinal motor neurons and muscle atrophy. Although the genetic cause of SMA has been mapped to the Survival Motor Neuron1 (SMN1) gene, mechanisms underlying selective motor neuron degeneration in SMA remain largely unknown. Here we review the latest developments and our current understanding of the molecular mechanisms underlying SMA pathogenesis, focusing on the animal model systems that have been developed, as well as new diagnostic and treatment strategies that have been identified using these model systems. This article is part of a special issue entitled: Neuromuscular Diseases: Pathology and Molecular Pathogenesis.",

keywords = "Animal disease models, C. elegans, Drosophila, SMA, SMN, Zebrafish",

author = "Edens, {Brittany M.} and Senda Ajroud-Driss and Long Ma and Ma, {Yong Chao}",

note = "Publisher Copyright: {\textcopyright} 2014 Elsevier B.V.",

year = "2015",

month = apr,

day = "1",

doi = "10.1016/j.bbadis.2014.07.024",

language = "English (US)",

volume = "1852",

pages = "685--692",

journal = "Biochimica et Biophysica Acta - Molecular Basis of Disease",

issn = "0925-4439",

publisher = "Elsevier B.V.",

number = "4",

}

TY - JOUR

T1 - Molecular mechanisms and animal models of spinal muscular atrophy

AU - Edens, Brittany M.

AU - Ajroud-Driss, Senda

AU - Ma, Long

AU - Ma, Yong Chao

PY - 2015/4/1

Y1 - 2015/4/1

N2 - Spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, is characterized by the degeneration of spinal motor neurons and muscle atrophy. Although the genetic cause of SMA has been mapped to the Survival Motor Neuron1 (SMN1) gene, mechanisms underlying selective motor neuron degeneration in SMA remain largely unknown. Here we review the latest developments and our current understanding of the molecular mechanisms underlying SMA pathogenesis, focusing on the animal model systems that have been developed, as well as new diagnostic and treatment strategies that have been identified using these model systems. This article is part of a special issue entitled: Neuromuscular Diseases: Pathology and Molecular Pathogenesis.

AB - Spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, is characterized by the degeneration of spinal motor neurons and muscle atrophy. Although the genetic cause of SMA has been mapped to the Survival Motor Neuron1 (SMN1) gene, mechanisms underlying selective motor neuron degeneration in SMA remain largely unknown. Here we review the latest developments and our current understanding of the molecular mechanisms underlying SMA pathogenesis, focusing on the animal model systems that have been developed, as well as new diagnostic and treatment strategies that have been identified using these model systems. This article is part of a special issue entitled: Neuromuscular Diseases: Pathology and Molecular Pathogenesis.

KW - Animal disease models

KW - C. elegans

KW - Drosophila

KW - SMA

KW - SMN

KW - Zebrafish

UR - http://www.scopus.com/inward/record.url?scp=84922320499&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84922320499&partnerID=8YFLogxK

U2 - 10.1016/j.bbadis.2014.07.024

DO - 10.1016/j.bbadis.2014.07.024

M3 - Review article

C2 - 25088406

AN - SCOPUS:84922320499

SN - 0925-4439

VL - 1852

SP - 685

EP - 692

JO - Biochimica et Biophysica Acta - Molecular Basis of Disease

JF - Biochimica et Biophysica Acta - Molecular Basis of Disease

IS - 4

ER -

Molecular mechanisms and animal models of spinal muscular atrophy

Abstract

Funding

Keywords

ASJC Scopus subject areas

UN SDGs

Access to Document

Other files and links

Fingerprint

Cite this