Video Experimental Relacionado
Updated: Feb 25, 2026
03:45
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
4.3K
Mutaciones dobles en los genes FLNA y MYH11 que causan aneurisma y disección de la aorta torácica familiar: un
Nobuhiro Ogasawara1, Wakana Sato1, Hiroko Morisaki2
1Department of Cardiovascular Medicine, Akita University Graduate School of Medicine, Japan.
Internal medicine (Tokyo, Japan)
|February 23, 2026
Resumen
El aneurisma y la disección de la aorta torácica familiar (FTAAD) pueden ser el resultado de mutaciones genéticas combinadas de FLNA y MYH11. Estas mutaciones dobles pueden conducir a aneurismas aórticos y disección, que a menudo aparecen temprano en la vida.
Área de la Ciencia:
- Genética La genética.
- Medicina Cardiovascular La medicina cardiovascular es una especialidad de la salud.
- Neurología Neurología.
Sus antecedentes:
- El aneurisma y disección de la aorta torácica familiar (FTAAD) es una afección cardiovascular grave.
- Múltiples mutaciones genéticas pueden contribuir al desarrollo de FTAAD.
- Los aneurismas aórticos y las disecciones presentan riesgos significativos para la salud.
Objetivo del estudio:
- Investigar la base genética de FTAAD en una familia con miembros afectados.
- Para identificar mutaciones genéticas específicas asociadas con la enfermedad aórtica y hallazgos neurológicos.
- Para entender el efecto combinado de las mutaciones en los genes FLNA y MYH11.
Principales métodos:
- Estudio de caso de una madre y su hijo con antecedentes de eventos aórticos.
- Pruebas genéticas para mutaciones en los genes FLNA y MYH11.
- Revisión de los antecedentes médicos de los pacientes, incluyendo imágenes y intervenciones quirúrgicas.
Principales resultados:
- Una madre (paciente 1) y su hijo (paciente 2) fueron diagnosticados con afecciones aórticas.
- Las pruebas genéticas revelaron mutaciones dobles en los genes FLNA y MYH11 en ambos pacientes.
- El paciente 2 también presentó heterotopía nodular periventricular, un hallazgo neurológico.
Conclusiones:
- Las mutaciones combinadas en FLNA y MYH11 están implicadas en el aneurisma y la disección de la aorta torácica familiar.
- Estas alteraciones genéticas pueden manifestarse como aneurismas aórticos y disecciones, a menudo a una edad temprana.
- El estudio destaca la importancia de las pruebas genéticas en familias con antecedentes de enfermedad aórtica.
Videos de Conceptos Relacionados
01:30Aneurysm I: Introduction
518
An aortic aneurysm is a localized outpouching or dilation at a weak point in the artery wall. It may involve different parts of the aorta, such as the abdominal aorta, aortic arch, or thoracic aorta.Etiological factorsSeveral disorders are associated with aortic aneurysms.Congenital causes, such as primary connective tissue disorders like Marfan syndrome, impact the integrity and strength of connective tissues, notably affecting the aorta. Marfan syndrome is a genetic disorder that specifically...
518
02:18Alternative RNA Splicing
25.4K
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
25.4K
02:41Lethal Alleles
18.4K
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
18.4K
01:39Mutations
95.0K
Overview
95.0K
01:21Aneurysm II: Clinical Manifestations and Diagnostic Studies
408
Thoracic, aortic arch and abdominal aneurysms are significant vascular conditions that can present with various clinical manifestations and lead to serious complications. Understanding these manifestations and the appropriate diagnostic studies is essential for effective management and treatment.Thoracic Aortic AneurysmsThoracic aortic aneurysms often remain asymptomatic until they reach a size that impinges on adjacent structures. They typically cause deep, diffuse chest pain that radiates to...
408
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
555
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
555