Mineralised bone properties in a child with recessive osteogenesis imperfecta type XIV and in a conditional Tmem38b knockout murine model (Runx2-Cre; Tmem38bfl/fl)
Abstract
INTRODUCTION
OI type XIV is caused by variants in the TMEM38B gene, encoding for the ubiquitously expressed endoplasmic reticulum trimeric intracellular cation channel type B (TRIC-B), causing disruptions in calcium homeostasis and collagen synthesis. Patients with OI type XIV present with a highly variable clinical phenotype, ranging from asymptomatic to severe. We present here data from a 6 year clinical follow-up of two affected siblings and bone tissue characterisation obtained during corrective surgery from one of the patients, as well as tibiae from a novel Tmem38b conditional knockout murine model (Runx2-Cre; Tmem38bfl/fl).
METHODS
Clinical examinations of the patients include bone mineral density (BMD) measurements using dual-energy x-ray absorptiometry (DXA) scanning and gait analyses. Quantitative backscattered electron imaging (qBEI) was used to investigate bone mineralisation density distribution (BMDD) and osteocyte lacunae properties, and confocal laser scanning microscopy was used to quantify the osteocyte lacuno-canalicular network (OLCN) in both human and murine specimens.
RESULTS
Both patients (P1, P2) presented with muscular hypotension, fatigue, progression of lower limb deformities, and fractures. BMDD of the osteonal bone region of the tibia and fibula specimens obtained from P1 revealed no significant shift towards higher mineral content as seen in "classical" OI. Osteocyte lacunae porosity was elevated and analyses of the OLCN revealed a reduction in…
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