What are the clinical implications of LH2 dysfunction?
Mutations in the PLOD2 gene or deficiencies in LH2 activity can lead to several connective tissue disorders. One such disorder is Bruck syndrome, characterized by bone fragility and joint contractures due to defective collagen cross-linking. Additionally, altered LH2 expression has been implicated in fibrotic diseases, where excessive collagen deposition leads to tissue stiffness and organ dysfunction.
