Related Experiment Video
Updated: Jan 10, 2026
03:45
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
4.1K
[Marfan syndrome].
Ilkka Kaitila1, Eero Jokinen, Jorma Kokkonen
1Helsingin yliopisto, lääketieteellisen genetiikan osasto.
Duodecim; Laaketieteellinen Aikakauskirja
|April 11, 2012
Summary
Marfan syndrome presents with varied symptoms and is diagnosed using updated criteria. Research into its genetic causes and new treatments like ATR-blockers is ongoing for better patient care.
Area of Science:
- Genetics and Molecular Biology
- Cardiovascular Medicine
- Clinical Diagnostics
Background:
- Marfan syndrome is a genetic disorder affecting connective tissue.
- Clinical presentation shows significant heterogeneity and variability.
- The FBN1 gene is implicated in Marfan syndrome and other aortic conditions.
Purpose of the Study:
- To review Marfan syndrome's clinical heterogeneity, diagnostic criteria, etiology, and treatment options.
- To discuss the role of FBN1 gene mutations in differentiating Marfan syndrome.
- To explore novel therapeutic targets and management strategies.
Main Methods:
- Literature review focusing on clinical heterogeneity, diagnostic criteria (2010 expert group), molecular etiology, and treatment.
- Analysis of FBN1 gene mutations and their role in differential diagnosis.
- Examination of cellular TGF-beta-signaling pathways in pathogenesis.
Main Results:
- Updated diagnostic criteria (2010) aid in distinguishing Marfan syndrome from other aortic syndromes.
- FBN1 gene mutations are key diagnostic markers.
- Cellular TGF-beta-signaling offers potential new therapeutic avenues, though evidence is limited.
Conclusions:
- Marfan syndrome diagnosis relies on clinical findings, family history, and FBN1 gene analysis.
- Targeting TGF-beta-signaling presents a promising, albeit unproven, medical treatment approach.
- A structured approach to diagnosis, treatment, and follow-up is essential for Marfan patients, with specific considerations for the Finnish healthcare system.
More Related Videos
06:48Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
2.7K
08:22A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
Published on: September 16, 2019
8.3K
Related Concept Videos
01:43Sex-linked Disorders
108.1K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
108.1K
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
374
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...
374
01:29Cardiomyopathy IV: Restrictive Cardiomyopathy
431
Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
431
01:30Aneurysm I: Introduction
320
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...
320
01:27Mitral Valve Prolapse I: Introduction
352
IntroductionThe mitral valve, one of the heart's four valves, regulates blood flow. These valves have flaps that open and close to direct blood properly through the heart and body. During each heartbeat, the flaps open for blood to pass through and seal shut to prevent backflow. Specifically, the mitral valve opens to allow blood flow from the heart's upper left chamber to the lower left chamber. It then closes securely as the lower left chamber contracts to pump blood to the body, preventing...
352
01:23Cystic Fibrosis: Pathogenesis
680
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
680