Tissue microenvironments formed by extracellular matrix (ECM) networks play a crucial role in regulating tissue structure and function. Extracellular microfibrillar networks composed of large multidomain glycoproteins such as collagens and fibrillins are of particular interest in this regard since they surround cells, and thereby guide proper morphology and functional behavior of specialized cell types. Genetic defects in essential building blocks of the ECM architecture lead to multi-system connective tissue disorders affecting the musculoskeletal, dermal, vascular, ocular, and renal system to name but a few, collectively called heritable connective tissue disorders (HCTD). Tissue weakness caused by ECM protein defects often correlate with dysregulated growth and differentiation processes due to an abnormal growth factor bioavailability.
Due to the striking clinical features of individuals affected by HCTD, investigating the underlying molecular mechanisms allows to reveal fundamental pathways in embryonic development and postnatal tissue homeostasis. This research is not only required for the development of new therapeutic avenues for affected individuals, but also to tackle challenges of general medicine in age-related diseases accompanied by connective tissue degeneration and failed remodelling.
The goal of this Research Topic is to shed light on the most recent advances in molecular and genetics studies on HCTD (collagenopathies, fibrillinopathies and related disorders) and on the development of new cutting-edge treatments. We anticipate that this Research Topic will constitute an invaluable resource for non-clinical and clinical scientists committed to the study of the ECM and those with interests in diseases and biological processes influenced by the ECM. We welcome original articles, case reports offering novelty and more than incremental advances to the field and instructive review articles addressing the following topics:
- Discovery of novel genes and mutations
- Basic and translational research using different animal and cellular models
- Genomic, transcriptomic and proteomic studies
- Pathophysiological mechanisms of HCTD, including structural and biomechanical mechanisms of the ECM
- Development of new treatments or repurposing of drugs used in a more personalized manner
- ECM in growth factor regulation
- ECM as stem cell niche
Tissue microenvironments formed by extracellular matrix (ECM) networks play a crucial role in regulating tissue structure and function. Extracellular microfibrillar networks composed of large multidomain glycoproteins such as collagens and fibrillins are of particular interest in this regard since they surround cells, and thereby guide proper morphology and functional behavior of specialized cell types. Genetic defects in essential building blocks of the ECM architecture lead to multi-system connective tissue disorders affecting the musculoskeletal, dermal, vascular, ocular, and renal system to name but a few, collectively called heritable connective tissue disorders (HCTD). Tissue weakness caused by ECM protein defects often correlate with dysregulated growth and differentiation processes due to an abnormal growth factor bioavailability.
Due to the striking clinical features of individuals affected by HCTD, investigating the underlying molecular mechanisms allows to reveal fundamental pathways in embryonic development and postnatal tissue homeostasis. This research is not only required for the development of new therapeutic avenues for affected individuals, but also to tackle challenges of general medicine in age-related diseases accompanied by connective tissue degeneration and failed remodelling.
The goal of this Research Topic is to shed light on the most recent advances in molecular and genetics studies on HCTD (collagenopathies, fibrillinopathies and related disorders) and on the development of new cutting-edge treatments. We anticipate that this Research Topic will constitute an invaluable resource for non-clinical and clinical scientists committed to the study of the ECM and those with interests in diseases and biological processes influenced by the ECM. We welcome original articles, case reports offering novelty and more than incremental advances to the field and instructive review articles addressing the following topics:
- Discovery of novel genes and mutations
- Basic and translational research using different animal and cellular models
- Genomic, transcriptomic and proteomic studies
- Pathophysiological mechanisms of HCTD, including structural and biomechanical mechanisms of the ECM
- Development of new treatments or repurposing of drugs used in a more personalized manner
- ECM in growth factor regulation
- ECM as stem cell niche
