Abstracts from the First Scientific Meeting of the Soft Bones Foundation

Abstract

Michael Whyte, MD, described the discovery in 1923 of alkaline phosphatase (ALP), the first report in 1948 of HPP, and the many important lessons from investigation of patients, including major insight concerning the pathogenesis of the defective hard tissue mineralization leading to tooth loss and rickets during childhood and osteomalacia during adult life as well as identification of its etiology. Michael P. Whyte, MD Chair, Scientific Advisory Board Soft Bones Foundation Boonton, NJ, USA https://www.softbones.org/ Inorganic Pyrophosphate: Nature's Water Softener R Graham G Russell The Mellanby CentreSheffield University SheffieldUK Botnar Research CentreOxford University OxfordUK The identification of inorganic pyrophosphate (PPi) as a key regulator of biological calcification can be traced back to the 1960s, starting with the work of Fleisch and colleagues. What Patients With Hypophosphatasia Revealed About the Alkaline Phosphatase They Need Michael P Whyte Center for Metabolic Bone Disease and Molecular ResearchShriners Hospital for Children St. Louis, MOUSA Division of Bone and Mineral DiseasesDepartment of Internal MedicineWashington University School of Medicine St. Louis, MOUSA Although hypophosphatasia (HPP) is rare, manifests the greatest severity range of all skeletal diseases, and was the last rickets/osteomalacia to acquire a medical treatment, most of what we know about the function of ALP has come from studies of HPP patients. Amino acid sequence analysis of proteolytic digests of ALP purified from HPP autopsy tissues indicated HPP is an inborn error of the tissue nonspecific isoenzyme of ALP (TNSALP).