Serum endostatin levels are associated with diffusion capacity and with tuberous sclerosis- associated lymphangioleiomyomatosis

• Published in: Orphanet journal of rare diseases Vol. 14; no. 1; pp. 72 - 5
• Main Authors: Lamattina, Anthony M., Poli, Sergio, Kidambi, Pranav, Bagwe, Shefali, Courtwright, Andrew, Louis, Pierce H., Shrestha, Shikshya, Stump, Benjamin, Goldberg, Hilary J., Thiele, Elizabeth A., Rosas, Ivan, Henske, Elizabeth P., El-Chemaly, Souheil
• Format: Journal Article
• Language: English
• Published: London BioMed Central 29.03.2019; BioMed Central Ltd; BMC
• Subjects: Adult; Age; Angiogenesis; Angiogenesis inhibitors; Biomarkers - blood; Cohort Studies; Collagen; Disease; DLCO; Endostatin; Endostatins - blood; Endostatins - genetics; Female; Gene expression; Gene Silencing; Genes; Germ-Line Mutation; Human Genetics; Humans; Isolated decrease; LAM; Letter to the Editor; Lymphangioleiomyomatosis - blood; Lymphangioleiomyomatosis - complications; Lymphangioleiomyomatosis - genetics; Lymphangioleiomyomatosis - physiopathology; Lymphatic diseases; Medical research; Medicine; Medicine & Public Health; Middle Aged; Pharmacology/Toxicology; Rare diseases; Rare pulmonary diseases; Regression analysis; TSC; TSC1 gene; TSC2 gene; Tuberous sclerosis; Tuberous Sclerosis - complications; Tuberous Sclerosis Complex 1 Protein - genetics; Tuberous Sclerosis Complex 2 Protein - genetics; Variables; Vascular endothelial growth factor; Womens health; LAM; DLCO; TSC; Isolated decrease; Endostatin
• ISSN: 1750-1172; 1750-1172
• DOI: 10.1186/s13023-019-1050-4

Endostatin is a naturally occurring collagen fragment with anti-angiogenic properties. We investigated the association between serum endostatin levels and DLCO in a cohort of patients with lymphangioleiomyomatosis (LAM). Associations of endostatin levels to clinical features of LAM were explored using logistic regression models. Endostatin levels were associated with DLCO and were higher in subjects with TSC-associated LAM compared to sporadic LAM. These data suggest that endostatin could be a predictive biomarker of decline in DLCO and that germline mutational inactivation of the TSC1 or TSC2 gene is associated with higher endostatin levels. These findings could offer novel insights into the pathogenesis of LAM.