Searchable abstracts of presentations at key conferences on calcified tissues

ba0004oc9 | (1) | ICCBH2015

Skeletal manifestations in pediatric WNT1 osteoporosis

Makitie Riikka , Pekkinen Minna , Laine Christine , Makitie Outi

Objectives: We recently identified a heterozygous missense mutation c.652T→G (p. C218G) in WNT1 as the cause of severe primary osteoporosis (Laine et al. New Engl J Med 2013). The mutated WNT1 reduces activation of the canonical WNT1/β-catenin-signaling, resulting in decreased osteoblastic function. The mutation was originally identified in a large Finnish family presenting with dominantly inherited, early-onset osteoporosis, with affected...

ba0002p46 | (1) | ICCBH2013

Interactions of adipokines and bone metabolism in patients with severe juvenile idiopathic arthritis

Markula-Patjas Kati , Ivaska Kaisa , Pekkinen Minna , Andersson Sture , Viljakainen Heli , Makitie Outi

Objectives: The skeleton and adipose tissue interact. Our aim was to evaluate the interactions between adipokines and bone metabolism, and their association with disease-related factors in patients with severe juvenile idiopathic arthritis (JIA).Methods: The study included 49 patients (median age 14.8 years, median disease duration 10.2 years) with refractory polyarticular JIA and 89 sex- and age-matched healthy controls. The subjects underwent clinical ...

ba0002p77 | (1) | ICCBH2013

A novel mutation in CRTAP gene in a patient with severe ostegenesis imperfecta type VII

Vuorimies Ilkka , Pekkinen Minna , Becker Jutta , Valta Helena , Netzer Christian , Makitie Outi

Background: Osteogenesis imperfecta (OI) is a genetic disorder with low bone mass and bone fragility. Type VII OI is one of the autosomal recessive subtypes and clinically moderate to lethal. It is caused by mutations in the cartilage associated protein (CRTAP) gene. Currently <20 mutations are known.Case description: An 11-year-old Iraqi female was referred to our hospital after immigration to Finland. She had suffered numerous peripheral a...

ba0005p272 | Nutrition | ECTS2016

Obese young adults exhibit lower total and lower free serum 25-hydroxycholecalciferol in a randomized vitamin D intervention

Holmlund-Suila Elisa , Pekkinen Minna , Ivaska Kaisa K. , Andersson Sture , Makitie Outi , Viljakainen Heli

Objective: Although obesity is a risk factor for vitamin D insufficiency, its impact on vitamin D-binding protein (DBP) concentration, and thereby possibly also on free 25OHD, is less well known. Our aim was to compare total and free serum 25OHD, and DBP concentrations between obese and normal-weight young adults at baseline, and their responses to cholecalciferol supplementation.Design: A 12 weeks’ randomized, double-blinded clinical trial.<p c...

ba0003pp79 | Bone development/growth and fracture repair | ECTS2014

Associations among vitamin D binding protein polymorphisms and concentrations and total, free, and bioavailable serum 25-hydroxyvitamin D concentrations in finnish adults

Saarnio Elisa , Pekkinen Minna , Itkonen Suvi , Kemi Virpi , Karp Heini , Karkkainen Merja , Makitie Outi , Lamberg-Allardt Christel

Vitamin D and its metabolites are bound to vitamin D binding protein (DBP) in the circulation. Only a small proportion is in unbound, free form. According to the ‘free-hormone-hypothesis’ only the free form is biologically active. DBP is a polymorphic protein and different variants of the protein differ in their ability to bind vitamin D. This may have an impact on the amount of free and bioavailable (free+albumin-bound) 25-hydroxyvitamin D (25(OH)D) in the circulati...

ba0003pp260 | Osteoporosis: pathophysiology and epidemiology | ECTS2014

Dietary phosphorus intake is positively associated with some radial and tibial pQCT bone traits in premenopausal females with seemingly high calcium intake

Itkonen Suvi , Saarnio Elisa , Kemi Virpi , Karp Heini , Pekkinen Minna , Rita Hannu , Sievanen Harri , Laitinen Kalevi , Lamberg-Allardt Christel

Phosphorus intake in western countries is high due to abundant consumption of animal protein and also because of the expanding use of highly absorbable food additive phosphate (FAP) salts in food processing. P is essential for hydroxyapatite in bone, but short-term studies have shown that high P, especially FAP, intake has acute negative effects on bone metabolism. In this study, we investigated the associations between dietary P intake and bone turnover markers by using a cro...

ba0002lb2 | (1) | ICCBH2013

WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta identify a key WNT ligand regulating bone mass

Laine Christine , Joeng Kyu Sang , Campeau Philippe , Kiviranta Riku , Tarkkonen Kati , Grover Monica , Lu James , Pekkinen Minna , Wessman Maija , Heino Terhi , Nieminen-Pihala Vappu , Laine Tero , Kroger Heikki , Cole William , Lehesjoki Anna-Elina , Krakow Deborah , Curry Cynthia , Cohn Daniel , Gibbs Richard , Lee Brendan , Makitie Outi

The role of the WNT pathway in skeletal maintenance has been extensively studied since the identification of mutations in key signaling WNT mediators (LRP5 and sclerostin) in high and low bone mass phenotypes. However, the identity of the key WNT ligand that signals via LRP5/6 has remained unknown. We aimed to identify genes with a major effect on the skeleton by studying individuals and families with early-onset osteoporosis or osteogenesis imperfecta (OI).<p class="abste...