Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:3.4.23.15 (
renin
)
35,795
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
LAMA2
-related congenital muscular dystrophy, also known as
MDC1A
, is caused by loss-of-function mutations in the alpha2 chain of Laminin-211. Loss of this protein interrupts the connection between the muscle cell and its extracellular environment and results in an aggressive, congenital-onset muscular dystrophy characterized by severe hypotonia, lack of independent ambulation, and early mortality driven by respiratory complications and/or failure to thrive. Of the pathomechanisms of
MDC1A
, the earliest and most prominent is widespread and rampant fibrosis. Here, we will discuss some of the key drivers of fibrosis including TGF-beta and
renin
-angiotensin system signaling and consequences of these pathways including myofibroblast transdifferentiation and matrix remodeling. We will also highlight some of the differences in fibrogenesis in congenital muscular dystrophy (CMD) with that seen in Duchenne muscular dystrophy (DMD). Finally, we will connect the key signaling pathways in the pathogenesis of
MDC1A
to the current status of the therapeutic approaches that have been tested in the preclinical models of
MDC1A
to treat fibrosis.
...
PMID:Fibrogenesis in
LAMA2
-Related Muscular Dystrophy Is a Central Tenet of Disease Etiology. 3211 41
