The Genetic Landscape of Connective Tissue Disorders

Dear Colleagues,

The exploration of the extracellular matrix (ECM), and its multifaceted roles in hereditary connective tissue disorders, is not only a journey into the foundational elements of our biology but also an essential venture for medical advancement. This complex assembly of an intricate network of proteins, glycoproteins, and an array of macromolecules serves as the backbone of tissue architecture and integrity and has a dynamic nature that extends beyond mere structural support by actively orchestrating critical cellular processes such as differentiation, migration, and proliferation. These processes are crucial for maintaining the delicate equilibrium of bodily functions in all tissues and organs and, when disrupted, can lead to a spectrum of connective tissue disorders.

Hereditary connective tissue disorders (HCTDs) are traditionally known to involve the skin, bones, and blood vessels. The study of HCTDs has led to the discovery of many pathogenic variations in the genes involved ECM production and assembly, and it continues to offer invaluable insights into the complex mechanics of connective tissues as well as broader implications for genetics, developmental biology, and clinical medicine. Moreover, inherited disorders that affect ECM components—such as Marfan syndrome and Ehlers-Danlos syndromes—highlight how genetic mutations impacting ECM proteins can lead to systemic effects throughout the body. Delving into the ECM’s labyrinthine pathways holds the promise of untangling the mysteries behind these disorders, understanding the genetic basis and pathological manifestations of these conditions, and many disease processes. Its role in cell signaling and tissue repair suggests that manipulating the ECM could lead to novel therapeutic approaches for regenerative medicine, anti-aging treatments, and even strategies to inhibit tumor metastasis. The importance of such research cannot be overstated, as it has the potential to revolutionize the treatment and management of hereditary connective tissue disorders, providing hope for those affected by these conditions and insight into the aging process itself.

As we stand on the cusp of these discoveries, it is imperative to allocate resources and intellectual capital to this cause. By dedicating this Special Issue to the advancement of our knowledge on hereditary connective tissue disorders, we underscore our commitment to a future where such afflictions are no longer an insurmountable challenge but a controllable aspect of human health.

Dr. Irman Forghani
Guest Editor

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• elastin/fibrillin network

• integrin signaling pathway
• TGF-β Signaling Pathway
• metalloproteinases
• aortapathy
• genotype-phenotype correlation
• marfan syndrome
• loeys-dietz syndromes
• ehlers-danlos syndromes
• osteogenesis imperfecta
• pathways and molecular mechanisms