Variant "FBN1:p.Ser1039*"
Search result: 1 record
Variant information
Gene:
Variant:
FBN1:p.Ser1039* 
Mouse homolog:
Fbn1:p.Cys1039Tyr 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
Disorder:
Reference:
Effect type:
Expressivity(1)  
Modifier effect:
destabilized plasma membrane and/or an altered extracellular matrix(1)  
Detail:
  • Target disease:
    Muscular Dystrophy (DOID_9884)
    Effect type:
    Expressivity 
    Modifier effect:
    destabilized plasma membrane and/or an altered extracellular matrix 
    Evidence:
    Study on animal models 
    Effect:
    Modifier genes that alter the TGFβ pathway and approaches to modulate TGFβ activity to ameliorate muscle disease.
    Reference:
    Title:
    Modifying muscular dystrophy through transforming growth factor-β.
    Species studied:
    Mouse
    Abstract:
    Muscular dystrophy arises from ongoing muscle degeneration and insufficient regeneration. This imbalance leads to loss of muscle, with replacement by scar or fibrotic tissue, resulting in muscle weakness and, eventually, loss of muscle function. Human muscular dystrophy is characterized by a wide range of disease severity, even when the same genetic mutation is present. This variability implies that other factors, both genetic and environmental, modify the disease outcome. There has been an ongoing effort to define the genetic and molecular bases that influence muscular dystrophy onset and progression. Modifier genes for muscle disease have been identified through both candidate gene approaches and genome-wide surveys. Multiple lines of experimental evidence have now converged on the transforming growth factor-β (TGF-β) pathway as a modifier for muscular dystrophy. TGF-β signaling is upregulated in dystrophic muscle as a result of a destabilized plasma membrane and/or an altered extracellular matrix. Given the important biological role of the TGF-β pathway, and its role beyond muscle homeostasis, we review modifier genes that alter the TGF-β pathway and approaches to modulate TGF-β activity to ameliorate muscle disease.