LMO7-null mice exhibit phenotypes consistent with emery-dreifuss muscular dystrophy

Aaron Mull, Gene Kim, James Holaska

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

Introduction: Mutations in the inner nuclear envelope protein emerin cause Emery-Dreifuss muscular dystrophy (EDMD), which is characterized by progressive skeletal muscle wasting, cardiac conduction defects, and tendon contractures. We previously showed that emerin binds directly to the transcription regulator Lmo7 and attenuates its activity to regulate the proper temporal expression of important myogenic differentiation genes. Methods: The skeletal muscle and cardiac phenotypes were analyzed in a newly generated Lmo7-null mouse using histological analysis, echocardiography, and various neuromuscular tests to determine if Lmo7 was important for skeletal muscle and cardiac function. Results: Lmo7-null mice had growth retardation, decreased fiber size, and impaired skeletal muscle and cardiac function. Lmo7-null mice also had lower levels of phosphorylated retinoblastoma (Rb), extracellular signal-regulated kinase, and c-Jun N-terminal kinase, which is consistent with altered Rb and mitogen-activated protein kinase signaling. Conclusions: These findings demonstrate that loss of Lmo7 in mice causes myopathic phenotypes similar to those seen in other EDMD mouse models.

Original languageEnglish (US)
Pages (from-to)222-228
Number of pages7
JournalMuscle and Nerve
Volume51
Issue number2
DOIs
StatePublished - Feb 1 2015

Fingerprint

Emery-Dreifuss Muscular Dystrophy
Phenotype
Skeletal Muscle
Retinoblastoma
JNK Mitogen-Activated Protein Kinases
Extracellular Signal-Regulated MAP Kinases
Nuclear Envelope
Contracture
Nuclear Proteins
Mitogen-Activated Protein Kinases
Tendons
Echocardiography
Mutation
Growth
Genes

All Science Journal Classification (ASJC) codes

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

Cite this

@article{7b41304d0a8942f5ac607b0a05996394,
title = "LMO7-null mice exhibit phenotypes consistent with emery-dreifuss muscular dystrophy",
abstract = "Introduction: Mutations in the inner nuclear envelope protein emerin cause Emery-Dreifuss muscular dystrophy (EDMD), which is characterized by progressive skeletal muscle wasting, cardiac conduction defects, and tendon contractures. We previously showed that emerin binds directly to the transcription regulator Lmo7 and attenuates its activity to regulate the proper temporal expression of important myogenic differentiation genes. Methods: The skeletal muscle and cardiac phenotypes were analyzed in a newly generated Lmo7-null mouse using histological analysis, echocardiography, and various neuromuscular tests to determine if Lmo7 was important for skeletal muscle and cardiac function. Results: Lmo7-null mice had growth retardation, decreased fiber size, and impaired skeletal muscle and cardiac function. Lmo7-null mice also had lower levels of phosphorylated retinoblastoma (Rb), extracellular signal-regulated kinase, and c-Jun N-terminal kinase, which is consistent with altered Rb and mitogen-activated protein kinase signaling. Conclusions: These findings demonstrate that loss of Lmo7 in mice causes myopathic phenotypes similar to those seen in other EDMD mouse models.",
author = "Aaron Mull and Gene Kim and James Holaska",
year = "2015",
month = "2",
day = "1",
doi = "10.1002/mus.24286",
language = "English (US)",
volume = "51",
pages = "222--228",
journal = "Muscle and Nerve",
issn = "0148-639X",
publisher = "John Wiley and Sons Inc.",
number = "2",

}

LMO7-null mice exhibit phenotypes consistent with emery-dreifuss muscular dystrophy. / Mull, Aaron; Kim, Gene; Holaska, James.

In: Muscle and Nerve, Vol. 51, No. 2, 01.02.2015, p. 222-228.

Research output: Contribution to journalArticle

TY - JOUR

T1 - LMO7-null mice exhibit phenotypes consistent with emery-dreifuss muscular dystrophy

AU - Mull, Aaron

AU - Kim, Gene

AU - Holaska, James

PY - 2015/2/1

Y1 - 2015/2/1

N2 - Introduction: Mutations in the inner nuclear envelope protein emerin cause Emery-Dreifuss muscular dystrophy (EDMD), which is characterized by progressive skeletal muscle wasting, cardiac conduction defects, and tendon contractures. We previously showed that emerin binds directly to the transcription regulator Lmo7 and attenuates its activity to regulate the proper temporal expression of important myogenic differentiation genes. Methods: The skeletal muscle and cardiac phenotypes were analyzed in a newly generated Lmo7-null mouse using histological analysis, echocardiography, and various neuromuscular tests to determine if Lmo7 was important for skeletal muscle and cardiac function. Results: Lmo7-null mice had growth retardation, decreased fiber size, and impaired skeletal muscle and cardiac function. Lmo7-null mice also had lower levels of phosphorylated retinoblastoma (Rb), extracellular signal-regulated kinase, and c-Jun N-terminal kinase, which is consistent with altered Rb and mitogen-activated protein kinase signaling. Conclusions: These findings demonstrate that loss of Lmo7 in mice causes myopathic phenotypes similar to those seen in other EDMD mouse models.

AB - Introduction: Mutations in the inner nuclear envelope protein emerin cause Emery-Dreifuss muscular dystrophy (EDMD), which is characterized by progressive skeletal muscle wasting, cardiac conduction defects, and tendon contractures. We previously showed that emerin binds directly to the transcription regulator Lmo7 and attenuates its activity to regulate the proper temporal expression of important myogenic differentiation genes. Methods: The skeletal muscle and cardiac phenotypes were analyzed in a newly generated Lmo7-null mouse using histological analysis, echocardiography, and various neuromuscular tests to determine if Lmo7 was important for skeletal muscle and cardiac function. Results: Lmo7-null mice had growth retardation, decreased fiber size, and impaired skeletal muscle and cardiac function. Lmo7-null mice also had lower levels of phosphorylated retinoblastoma (Rb), extracellular signal-regulated kinase, and c-Jun N-terminal kinase, which is consistent with altered Rb and mitogen-activated protein kinase signaling. Conclusions: These findings demonstrate that loss of Lmo7 in mice causes myopathic phenotypes similar to those seen in other EDMD mouse models.

UR - http://www.scopus.com/inward/record.url?scp=84920876070&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84920876070&partnerID=8YFLogxK

U2 - 10.1002/mus.24286

DO - 10.1002/mus.24286

M3 - Article

C2 - 24825363

AN - SCOPUS:84920876070

VL - 51

SP - 222

EP - 228

JO - Muscle and Nerve

JF - Muscle and Nerve

SN - 0148-639X

IS - 2

ER -