Endocrine Abstracts

Genetic factors play an important role in osteoporosis. Several monogenic forms of osteoporosis have been recognized. The most common of these is osteogenesis imperfecta (OI) in which dominantly inherited mutations in the genes encoding type I collagen (COL1A1 and COL1A2) are responsible for approximately 90% of the cases. Several rare autosomal recessive forms of OI have also been described. In these the defects lie in proteins involved in posttranslational modification of ty...

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Hypophosphatasia (HPP) is a rare inborn metabolic disorder due to ALPL gene (1p36.12) mutations leading to deficient activity of the Tissue Non-Specific Alkaline Phosphatase (TNSALP), a homodimeric cell surface phosphohydrolase expressed in multiple tissues. Autosomal recessive or dominant inheritance of more than 300 different loss-of-function mutations cause accumulation of TNSALP substrates, including inorganic pyrophosphate (PPi), a potent inhibitor of mineralization, Pyri...