Cohort comprised mutation-positive (N = 13; age 17-76 years) and mutation-negative (N = 13; 16-77 years) subjects from two Finnish families with autosomal dominant WNT1osteoporosis due to a heterozygous missense mutation c.652T>G (p.C218G) in WNT1.
The correlations between osteoporosis and either the BsmI restriction site polymorphism in VDR or the (TA)n repeat polymorphism in ESR1 were analyzed in 73 and 67 genotyped patients, respectively.
In this study, VDR gene <i>ApaI</i> (rs7975232), <i>BsmI</i> (rs 1544410) and <i>TaqI</i> (rs731236) genotypes were compared in men with osteoporosis and male controls.
Thus, the greater therapeutic effects of AH-1 than those of 1α,25(OH)<sub>2</sub>D<sub>3</sub> in in vivo studies using osteoporosis rat models may be due to 24R-hydroxy-AH-1 whose VDR affinity was 91% of that of AH-1.
The AA genotype (c.1024+283G>A gene variant; VDR gene) was associated with lower <i>Z</i> scores before ERT vs GA (<i>P</i>=0.033), was encountered in 82.3% of patients with osteoporosis and was more frequent in patients with pathological fractures.
In this study, we investigated the relationship between sarcopenia (evaluated in term of fibers atrophy), vitamin d receptor protein expression and <i>TaqI/Cdx2/FokI</i> VDR genotypes in an Italian cohort of osteoporosis(n=44) and osteoarthritis (n=55) patients.
Vitamin D receptor (VDR) ligands, such as 1α,25-dihydroxyvitamin D<sub>3</sub> [1α,25(OH)<sub>2</sub>D<sub>3</sub>] and its analogs, have been investigated for their potential clinical use in the treatment of various diseases such as type I rickets, osteoporosis, psoriasis, leukemia, and cancer.
Altogether, 12 mutation-positive (MP) subjects (median age, 39 years; range, 11 to 76 years) and 12 mutation-negative (MN) subjects (35 years; range, 9 to 59 years) from two Finnish families with WNT1osteoporosis due to the heterozygous p.C218GWNT1 mutation.
The identification of Wnt1 as a regulator of bone formation and remodeling provides the basis for development of Wnt1-targeting drugs for the treatment of osteoporosis.
Patients carrying homozygous WNT1 mutations have more frequent fractures while heterozygous carriers of the mutation in WNT1 gene are also found to have early onset osteoporosis.
The microarray data from the Gene Expression Omnibus database accession number GSE51686, were downloaded and used to identify differentially expressed genes (DEGs) in fracture callus tissue samples obtained from the femora of type I collagen (Col1a1)‑kringle containing transmembrane protein 2 (Krm2) mice and low density lipoprotein receptor‑related protein 5‑/‑ (Lrp5‑/‑) transgenic mice of osteoporosis compared with those in wild‑type (WT) mice.
Collectively, our data suggest that WNT1-related OI and osteoporosis are caused in part by decreased mTORC1-dependent osteoblast function resulting from loss of WNT1 signaling in osteocytes.
The implication of WNT1 in the control of bone formation identifies a potential new target for the treatment of low bone mass disorders, such as osteoporosis.
To evaluate the relationship between osteocyte-specific protein expression and bone histology in patients with monogenic osteoporosis due to wingless integration site 1 (WNT1) or plastin 3 (PLS3) mutations.