The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb–Girdle Muscular Dystrophy

Limb–girdle muscular dystrophy R1 (LGMDR1) is characterized by progressive proximal muscle weakness due to mutations in the CAPN3 gene. Little is known about CAPN3’s function in muscle, but its loss results in aberrant sarcomere formation. Human muscle structure was analyzed in this study, with obse...

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Published inCells (Basel, Switzerland) Vol. 14; no. 6; p. 446
Main Authors Valls, Andrea, Ruiz-Roldán, Cristina, Immanuel, Jenita, Alonso-Martín, Sonia, Gallardo, Eduard, Fernández-Torrón, Roberto, Bonilla, Mario, Lersundi, Ana, Hernández-Laín, Aurelio, Domínguez-González, Cristina, Vílchez, Juan Jesús, Iruzubieta, Pablo, López de Munain, Adolfo, Sáenz, Amets
Format Journal Article
LanguageEnglish
Published Switzerland MDPI AG 17.03.2025
MDPI
Subjects
Analysis
Antibodies
Blood vessels
Calpain
Calpain - genetics
Calpain - metabolism
calpain 3
costamere
Extracellular matrix
Extracellular Matrix - metabolism
Female
Focal adhesion kinase
Genetic aspects
Growth factors
Homeostasis
Humans
Integrin beta1 - metabolism
integrin β1
Integrins
Invoices
Kinases
LGMDR1
limb-girdle muscular dystrophy
Male
Microscopy
Muscle Proteins - genetics
Muscle Proteins - metabolism
Muscle, Skeletal - metabolism
Muscle, Skeletal - pathology
Muscular Dystrophies, Limb-Girdle - genetics
Muscular Dystrophies, Limb-Girdle - metabolism
Muscular Dystrophies, Limb-Girdle - pathology
Muscular Dystrophies, Limb-Girdle - physiopathology
Muscular dystrophy
Musculoskeletal system
Patients
Protein Isoforms - metabolism
Proteins
Sarcolemma
Sarcolemma - metabolism
Signal Transduction
Talin
Talin - metabolism
United States
Massachusetts
Germany
Spain
United States > US
integrin β1
LGMDR1
costamere
calpain 3
limb-girdle muscular dystrophy
Online AccessGet full text
ISSN2073-4409
2073-4409
DOI10.3390/cells14060446

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Abstract Limb–girdle muscular dystrophy R1 (LGMDR1) is characterized by progressive proximal muscle weakness due to mutations in the CAPN3 gene. Little is known about CAPN3’s function in muscle, but its loss results in aberrant sarcomere formation. Human muscle structure was analyzed in this study, with observations including integrin β1D isoform (ITGβ1D) mislocalization, a lack of Talin-1 (TLN1) in the sarcolemma and the irregular expression of focal adhesion kinase (FAK) in LGMDR1 muscles, suggesting a lack of integrin activation with an altered sarcolemma, extracellular matrix (ECM) assembly and signaling pathway deregulation, which may cause frailty in LGMDR1 muscle fibers. Additionally, altered nuclear morphology, centrosome distribution and microtubule organization have been found in muscle cells derived from LGMDR1 patients.
AbstractList Limb–girdle muscular dystrophy R1 (LGMDR1) is characterized by progressive proximal muscle weakness due to mutations in the CAPN3 gene. Little is known about CAPN3’s function in muscle, but its loss results in aberrant sarcomere formation. Human muscle structure was analyzed in this study, with observations including integrin β1D isoform (ITGβ1D) mislocalization, a lack of Talin-1 (TLN1) in the sarcolemma and the irregular expression of focal adhesion kinase (FAK) in LGMDR1 muscles, suggesting a lack of integrin activation with an altered sarcolemma, extracellular matrix (ECM) assembly and signaling pathway deregulation, which may cause frailty in LGMDR1 muscle fibers. Additionally, altered nuclear morphology, centrosome distribution and microtubule organization have been found in muscle cells derived from LGMDR1 patients.
Limb-girdle muscular dystrophy R1 (LGMDR1) is characterized by progressive proximal muscle weakness due to mutations in the CAPN3 gene. Little is known about CAPN3's function in muscle, but its loss results in aberrant sarcomere formation. Human muscle structure was analyzed in this study, with observations including integrin β1D isoform (ITGβ1D) mislocalization, a lack of Talin-1 (TLN1) in the sarcolemma and the irregular expression of focal adhesion kinase (FAK) in LGMDR1 muscles, suggesting a lack of integrin activation with an altered sarcolemma, extracellular matrix (ECM) assembly and signaling pathway deregulation, which may cause frailty in LGMDR1 muscle fibers. Additionally, altered nuclear morphology, centrosome distribution and microtubule organization have been found in muscle cells derived from LGMDR1 patients.Limb-girdle muscular dystrophy R1 (LGMDR1) is characterized by progressive proximal muscle weakness due to mutations in the CAPN3 gene. Little is known about CAPN3's function in muscle, but its loss results in aberrant sarcomere formation. Human muscle structure was analyzed in this study, with observations including integrin β1D isoform (ITGβ1D) mislocalization, a lack of Talin-1 (TLN1) in the sarcolemma and the irregular expression of focal adhesion kinase (FAK) in LGMDR1 muscles, suggesting a lack of integrin activation with an altered sarcolemma, extracellular matrix (ECM) assembly and signaling pathway deregulation, which may cause frailty in LGMDR1 muscle fibers. Additionally, altered nuclear morphology, centrosome distribution and microtubule organization have been found in muscle cells derived from LGMDR1 patients.
Limb-girdle muscular dystrophy R1 (LGMDR1) is characterized by progressive proximal muscle weakness due to mutations in the gene. Little is known about CAPN3's function in muscle, but its loss results in aberrant sarcomere formation. Human muscle structure was analyzed in this study, with observations including integrin β1D isoform (ITGβ1D) mislocalization, a lack of Talin-1 (TLN1) in the sarcolemma and the irregular expression of focal adhesion kinase (FAK) in LGMDR1 muscles, suggesting a lack of integrin activation with an altered sarcolemma, extracellular matrix (ECM) assembly and signaling pathway deregulation, which may cause frailty in LGMDR1 muscle fibers. Additionally, altered nuclear morphology, centrosome distribution and microtubule organization have been found in muscle cells derived from LGMDR1 patients.
Limb–girdle muscular dystrophy R1 (LGMDR1) is characterized by progressive proximal muscle weakness due to mutations in the CAPN3 gene. Little is known about CAPN3’s function in muscle, but its loss results in aberrant sarcomere formation. Human muscle structure was analyzed in this study, with observations including integrin β1D isoform (ITGβ1D) mislocalization, a lack of Talin-1 (TLN1) in the sarcolemma and the irregular expression of focal adhesion kinase (FAK) in LGMDR1 muscles, suggesting a lack of integrin activation with an altered sarcolemma, extracellular matrix (ECM) assembly and signaling pathway deregulation, which may cause frailty in LGMDR1 muscle fibers. Additionally, altered nuclear morphology, centrosome distribution and microtubule organization have been found in muscle cells derived from LGMDR1 patients.
Audience Academic
Author Gallardo, Eduard
Domínguez-González, Cristina
Vílchez, Juan Jesús
Iruzubieta, Pablo
Ruiz-Roldán, Cristina
Immanuel, Jenita
Fernández-Torrón, Roberto
López de Munain, Adolfo
Bonilla, Mario
Lersundi, Ana
Alonso-Martín, Sonia
Hernández-Laín, Aurelio
Valls, Andrea
Sáenz, Amets
AuthorAffiliation 7 Department of Neurology, Hospital Universitario Donostia, Osakidetza, 20014 San Sebastian, Spain
17 Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC H3A 2B4, Canada
3 Stem Cells and Aging Group, Bioengineering Area, Biogipuzkoa Health Research Institute, 20014 San Sebastian, Spain
6 Center for Biomedical Network Research on Rare Diseases (CIBERER), Spanish Ministry of Science & Innovation, Carlos III Health Institute, 28029 Madrid, Spain
1 Neuromuscular Diseases Group, Neurosciences Area, Biogipuzkoa Health Research Institute, 20014 San Sebastian, Spain
10 Department of Neuropathology, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain
13 Neuromuscular Unit, Department of Neurology, Hospital 12 de Octubre, 28041 Madrid, Spain
5 Institut de Recerca Sant Pau, IR-SantPau, 08041 Barcelona, Spain
9 Department of Surgery, University of the Basque Country UPV/EHU, 20014 San Sebastian, Spain
11 Instituto de Investigación Sa
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Issue 6
Keywords integrin β1
LGMDR1
costamere
calpain 3
limb-girdle muscular dystrophy
Language English
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PublicationDate 2025-03-17
PublicationDateYYYYMMDD 2025-03-17
PublicationDate_xml – month: 03
  year: 2025
  text: 2025-03-17
  day: 17
PublicationDecade 2020
PublicationPlace Switzerland
PublicationPlace_xml – name: Switzerland
– name: Basel
PublicationTitle Cells (Basel, Switzerland)
PublicationTitleAlternate Cells
PublicationYear 2025
Publisher MDPI AG
MDPI
Publisher_xml – name: MDPI AG
– name: MDPI
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Snippet Limb–girdle muscular dystrophy R1 (LGMDR1) is characterized by progressive proximal muscle weakness due to mutations in the CAPN3 gene. Little is known about...
Limb-girdle muscular dystrophy R1 (LGMDR1) is characterized by progressive proximal muscle weakness due to mutations in the gene. Little is known about CAPN3's...
Limb-girdle muscular dystrophy R1 (LGMDR1) is characterized by progressive proximal muscle weakness due to mutations in the CAPN3 gene. Little is known about...
Limb–girdle muscular dystrophy R1 (LGMDR1) is characterized by progressive proximal muscle weakness due to mutations in the CAPN3 gene. Little is known about...
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StartPage 446
SubjectTerms Analysis
Antibodies
Blood vessels
Calpain
Calpain - genetics
Calpain - metabolism
calpain 3
costamere
Extracellular matrix
Extracellular Matrix - metabolism
Female
Focal adhesion kinase
Genetic aspects
Growth factors
Homeostasis
Humans
Integrin beta1 - metabolism
integrin β1
Integrins
Invoices
Kinases
LGMDR1
limb-girdle muscular dystrophy
Male
Microscopy
Muscle Proteins - genetics
Muscle Proteins - metabolism
Muscle, Skeletal - metabolism
Muscle, Skeletal - pathology
Muscular Dystrophies, Limb-Girdle - genetics
Muscular Dystrophies, Limb-Girdle - metabolism
Muscular Dystrophies, Limb-Girdle - pathology
Muscular Dystrophies, Limb-Girdle - physiopathology
Muscular dystrophy
Musculoskeletal system
Patients
Protein Isoforms - metabolism
Proteins
Sarcolemma
Sarcolemma - metabolism
Signal Transduction
Talin
Talin - metabolism
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Title The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb–Girdle Muscular Dystrophy
URI https://www.ncbi.nlm.nih.gov/pubmed/40136695
https://www.proquest.com/docview/3181385323
https://www.proquest.com/docview/3181370382
https://pubmed.ncbi.nlm.nih.gov/PMC11941428
https://doaj.org/article/1f4625f897944989b6af4af368ca43cd
Volume 14
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