.png){kind=icon}
.png){kind=icon}
Return
Could the Phenotypic Outcomes of Genetic Variability in Cells Operating in Mechanically Dynamic Environments be Influenced by a Disrupted “Cell-ECM” Relationship? Using Cystic Fibrosis and Marfan Syndrome as an Example
.png){kind=icon}
OA
AI
D
DOI：10.1002/bies.70138.png)
.png){kind=icon}
.png){kind=icon}
Share.png){kind=icon}
Save
Abstract
En 中文
Diseases due to mutations in essential molecules can involve tissues functioning in very different environments, with some in mechanically active environments. Diseases arising from mutations in a single molecule, such as the CFTR in cystic fibrosis exhibit varied clinical phenotypes. The lung cells expressing mutations in CFTR are functioning in the mechanically active environment of the lung, but these mutations may also play an adverse role in the cardiovascular system. Similarly, Marfan syndrome arises from mutations in an extracellular matrix (ECM) molecule, fibrillin-1 and this molecule is also involved in tissues operating in very mechanically active environments. Thus, there is the potential for genetic variants with or without clinical symptoms individually to interact in the same individual to exhibit a unique interdependent phenotype involving disruption of the “Cell-ECM” relationship. Although the clinical phenotypes for the CFTR and fibrillin-1 individually are rare, both molecules are known to each have >500 mutations. This may be one example of a molecular pair that could uniquely interact, influencing cell function. This article will discuss this premise and address the potential basis for complementarity using CFTR and fibrillin-1 as examples.
Keywords:
CFTR
clinical phenotypes
cystic fibrosis
extracellular matrix
fibrillin-1
genetic variants
Marfan syndrome
mechanobiology
AI Summary
Key information extracted from the uploaded paper, including a brief overview, abstract, background, key highlights, visual analysis, and future outlook.
Journal
IF:
2.7
Papers:
4.7K
Citations:
1.0W
Organization
Cited Papers