Lysyl hydroxylase is an enzyme critical for the post-translational modification of collagen, catalyzing the hydroxylation of lysine residues which is essential for the stability and function of the collagen triple helix. Mutations in lysyl hydroxylase genes can lead to connective tissue disorders such as Ehlers-Danlos syndrome, highlighting its importance in maintaining connective tissue integrity.

Lysyl Hydroxylase

Post-translational modification (PTM) refers to the chemical alteration of proteins after their synthesis, which profoundly influences their function, localization, and interaction with other cellular molecules. These modifications are crucial for regulating cellular processes and can impact protein stability, activity, and signaling pathways.

Post-translational Modification

Collagen is the most abundant protein in the human body, providing structural support to skin, bones, tendons, and other connective tissues. It plays a critical role in maintaining skin elasticity and strength, and its degradation is associated with aging and various medical conditions.

Collagen

Hydroxylation of lysine residues

Stability of the collagen triple helix

Function of the collagen triple helix

Mutations in lysyl hydroxylase genes

Connective tissue disorders encompass a group of diseases that primarily affect the tissues supporting organs and other parts of the body, often leading to symptoms such as joint pain, skin abnormalities, and organ dysfunction. These disorders can be genetic or acquired, and they vary widely in severity and specific manifestations, requiring a multidisciplinary approach for diagnosis and management.

Connective Tissue Disorders

Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders characterized by hypermobility, skin hyperextensibility, and tissue fragility. It varies in severity and type, with some forms causing serious complications such as vascular rupture or organ damage.

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