Résumé
BACKGROUND:Inherited heart disease has a high prevalence and mortality rate,but its pathogenesis has not yet been clarified.Although relevant animal models have been established to provide a foundation for the pathogenesis research of inherited heart disease,the value of these research results has been significantly reduced due to differences among species.Therefore,a new model is needed to explore its occurrence and development. OBJECTIVE:To review the current role of induced pluripotent stem cells in disease modeling and potential application prospects in various inherited heart diseases. METHODS:The first author searched the relevant articles published nearly 13 years in PubMed from January to March 2023.The search terms were"induced pluripotent stem cell,inherited heart disease,congenital heart disease".Finally,76 articles were included for analysis. RESULTS AND CONCLUSION:Since 2007,when induced pluripotent stem cells were induced from human somatic cells,many studies have been reported on disease-specific induced pluripotent stem cells.Due to the ability of disease-specific induced pluripotent stem cells to reproduce disease phenotypes,they are expected to become a new research tool for in vitro disease modeling,used to analyze pathogenesis and develop auxiliary drugs.In the research of cardiovascular genetic diseases,cardiomyocytes derived from patient-specific induced pluripotent stem cells contain gene mutations that are involved in cardiac dysplasia.Therefore,it can be used as a new tool to study the potential mechanisms of inherited heart disease.Up to now,induced pluripotent stem cells-derived cardiomyocytes have been widely used to study the molecular mechanisms of various genetic heart diseases,such as cardiac electrophysiological diseases,cardiomyopathy,and some syndromic inherited heart diseases.
Résumé
Las células madre (CM) internacionalmente se dividen en embrionarias o fetales y somáticas, en dependencia de su origen. Las CM embrionarias son células pluripotenciales que generan todo tipo de células del organismo y no se emplean por problemas éticos y de lesgilaciones vigentes que prohíben su uso, además de la oposición de la iglesia. Las células somáticas, por el contrario, son las que se usan y ellas son multipotenciales, pero teóricamente solo generan un tipo de tejido específico
Stem cells (CM) are internationally divided into embryonic or fetal and somatic, depending on their origin. The embryonic CMs are pluripotent cells that generate all types of cells of the organism and are not used for ethical problems and current infractions that prohibit their use, in addition to the opposition of the church. Somatic cells, on the other hand, are the ones that are used and they are multipotential, but theoretically they only generate a specific type of tissue
Sujets)
Maladies cardiovasculaires , ThérapeutiqueRésumé
La muerte súbita se define como el fallecimiento inesperado que acontece antes de una hora desde el inicio de los síntomas, este tipo de muerte tiene un alto impacto social, mediático y económico. La primera causa es la de origen cardíaco y dentro de estas la cardiopatía isquémica es la más frecuente, pero las cardiopatías familiares (canalopatías y miocardiopatías) son porcentualmente más importantes en niños y jóvenes, donde representan la primera causa de muerte súbita cardíaca. Estas cardiopatías familiares tienen un claro sustrato genético que justifica la indicación de un adecuado estudio de los familiares de los fallecidos. De acuerdo a los datos de la población española del censo de 2013 (46,7 millones de habitantes) en la comunidad valenciana, que representa el 10% de esta población, se estima que residen 20000 personas con alguna cardiopatía familiar potencialmente letal. Dada la importancia y el impacto social de la muerte súbita de origen cardíaco, y puesto que la autopsia médico-legal tiene limitaciones para diagnosticar la enfermedad subyacente en este tipo de muertes, la estrategia más oportuna es el enfoque multidisciplinar, motivo por el cual en el año 2008 se creó la Unidad de Muerte Súbita Familiar y Cardiopatías Familiares en esta región
The sudden death is defined as the unexpected death that occurs within an hour of the onset of symptoms. This type of death has a high social, media and economic impact. The first cause is of cardiac origin, and within this, the ischemic heart disease is the most frequent, but family heart diseases (channelopathies and cardiomyopathies) are more important in children and young people, where they represent the first cause of sudden cardiac death. These family heart diseases have a clear genetic substrate that justifies the indication of an adequate study of the relatives of the deceased. According to the data of the Spanish population of the 2013 census (46.7 million inhabitants) in the Valencian Community, which represents 10% of this population, it is estimated that there are 20.000 people with some potentially lethal heart disease. Given the importance and the social impact of sudden death of cardiac origin, and since the medical-legal autopsy has limitations to diagnose the underlying disease in these types of deaths, the most opportune strategy is the multidisciplinary approach, which is why in 2008, the Family Sudden Death and Family Heart Diseases Unit was created in this region