Cellular pathology of the human heart in Duchenne muscular
dystrophy (DMD): lessons learned from in vitro modeling

J 2021

Cellular pathology of the human heart in Duchenne muscular dystrophy (DMD): lessons learned from in vitro modeling

SVOBODOVÁ, Barbora, Šárka JELÍNKOVÁ, Martin PEŠL, Deborah BECKEROVÁ, Alain LACAMPAGNE et. al.

Basic information

Original name

Cellular pathology of the human heart in Duchenne muscular dystrophy (DMD): lessons learned from in vitro modeling

Authors

SVOBODOVÁ, Barbora (203 Czech Republic, belonging to the institution), Šárka JELÍNKOVÁ (203 Czech Republic, belonging to the institution), Martin PEŠL (203 Czech Republic, belonging to the institution), Deborah BECKEROVÁ (203 Czech Republic, belonging to the institution), Alain LACAMPAGNE, A. C. MELI and Vladimír ROTREKL (203 Czech Republic, guarantor, belonging to the institution)

Edition

PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY, NEW YORK, SPRINGER, 2021, 0031-6768

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30105 Physiology

Country of publisher

Germany

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 4.458

RIV identification code

RIV/00216224:14110/21:00120133

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.1007/s00424-021-02589-0

UT WoS

000665672700001

Keywords in English

Cardiomyocyte; Contraction; Duchenne muscular dystrophy; In vitro modeling; Heart failure

Abstract

V originále

Duchenne muscular dystrophy is a genetic disorder where an X-linked mutation in the DMD gene initiates pathogenic development caused by the absence of dystrophin protein. This impacts primarily the evolution of a functional muscle tissue resulting in muscle weakness and later severe disability in young male patients leading to an early death. Patients in the final stage develop dilated cardiomyopathy leading ultimately to cardiac or respiratory failure as the cause of death. This review discusses recent advances in modeling the DMD pathology in vitro. It describes in detail the molecular abnormalities found on the cellular and organoid levels. The in vitro pathology is compared to that found in patients. Likewise, the drawbacks and limitations of current models are discussed.

Links

MUNI/A/1325/2020, interní kód MU

Name: Biomedicínské vědy

Investor: Masaryk University

NU20-06-00156, research and development project

Name: Vliv pneumologické medikace na funkce lidských kardiomyocytů.

Investor: Ministry of Health of the CR, Subprogram 1 - standard

ROZV/23/LF10/2019, interní kód MU

Name: Charakteristika buněčného modelu excitabilizace somatických buněk pomocí genové terapie za účelem léčby srdečních selhání způsobených nevodivou srdeční tkání

Investor: Ministry of Education, Youth and Sports of the CR, Internal development projects

2SGA2744, interní kód MU

Name: CARDIOSTEM (Acronym: CARDIOSTEM)

Investor: South-Moravian Region, Incoming grants

Citovat

SVOBODOVÁ, Barbora, Šárka JELÍNKOVÁ, Martin PEŠL, Deborah BECKEROVÁ, Alain LACAMPAGNE, A. C. MELI and Vladimír ROTREKL. Cellular pathology of the human heart in Duchenne muscular dystrophy (DMD): lessons learned from in vitro modeling. PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY. NEW YORK: SPRINGER, 2021, vol. 473, No 7, p. 1099-1115. ISSN 0031-6768. Available from: https://dx.doi.org/10.1007/s00424-021-02589-0.

@article{1787537,
   author = {Svobodová, Barbora and Jelínková, Šárka and Pešl, Martin and Beckerová, Deborah and Lacampagne, Alain and Meli, A. C. and Rotrekl, Vladimír},
   article_location = {NEW YORK},
   article_number = {7},
   doi = {http://dx.doi.org/10.1007/s00424-021-02589-0},
   keywords = {Cardiomyocyte; Contraction; Duchenne muscular dystrophy; In vitro modeling; Heart failure},
   language = {eng},
   issn = {0031-6768},
   journal = {PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY},
   title = {Cellular pathology of the human heart in Duchenne muscular dystrophy (DMD): lessons learned from in vitro modeling},
   url = {https://link.springer.com/article/10.1007%2Fs00424-021-02589-0},
   volume = {473},
   year = {2021}
}

TY  - JOUR
ID  - 1787537
AU  - Svobodová, Barbora - Jelínková, Šárka - Pešl, Martin - Beckerová, Deborah - Lacampagne, Alain - Meli, A. C. - Rotrekl, Vladimír
PY  - 2021
TI  - Cellular pathology of the human heart in Duchenne muscular dystrophy (DMD): lessons learned from in vitro modeling
JF  - PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
VL  - 473
IS  - 7
SP  - 1099-1115
EP  - 1099-1115
PB  - SPRINGER
SN  - 00316768
KW  - Cardiomyocyte
KW  - Contraction
KW  - Duchenne muscular dystrophy
KW  - In vitro modeling
KW  - Heart failure
UR  - https://link.springer.com/article/10.1007%2Fs00424-021-02589-0
N2  - Duchenne muscular dystrophy is a genetic disorder where an X-linked mutation in the DMD gene initiates pathogenic development caused by the absence of dystrophin protein. This impacts primarily the evolution of a functional muscle tissue resulting in muscle weakness and later severe disability in young male patients leading to an early death. Patients in the final stage develop dilated cardiomyopathy leading ultimately to cardiac or respiratory failure as the cause of death. This review discusses recent advances in modeling the DMD pathology in vitro. It describes in detail the molecular abnormalities found on the cellular and organoid levels. The in vitro pathology is compared to that found in patients. Likewise, the drawbacks and limitations of current models are discussed.
ER  -

SVOBODOVÁ, Barbora, Šárka JELÍNKOVÁ, Martin PEŠL, Deborah BECKEROVÁ, Alain LACAMPAGNE, A. C. MELI and Vladimír ROTREKL. Cellular pathology of the human heart in Duchenne muscular dystrophy (DMD): lessons learned from in vitro modeling. \textit{PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY}. NEW YORK: SPRINGER, 2021, vol.~473, No~7, p.~1099-1115. ISSN~0031-6768. Available from: https://dx.doi.org/10.1007/s00424-021-02589-0.

Detailed Information on Publication Record