Recent genome-wide association studies identified an association between low bone mineral density (BMD) and a single-nucleotide polymorphism (SNP) at the MALAT1 locus, but there is no functional evidence on the role of MALAT1 alterations in BMD or osteoporosis. Hence, scientists at MD Anderson Cancer Center aimed to assess the functional role of MALAT1 alterations in low BMD and osteoporosis.
Sudo Biosciences Ltd. has divulged non-receptor tyrosine-protein kinase TYK2 inhibitors reported to be useful for the treatment of scleroderma, radiographic ankylosing spondylitis, type 1 diabetes, idiopathic pulmonary fibrosis, multiple sclerosis, psoriasis, rheumatoid arthritis, Sjögren’s syndrome and systemic lupus erythematosus, among others.
Mutations in the gene encoding calpain-3, CAPN3, are causative for autosomal recessive limb-girdle muscular dystrophy-1 (LGMDR1), a type of muscular dystrophy characterized by muscle weakening around the shoulders and hips for which there is currently no treatment.
The long-term use of corticosteroids for treating Duchenne muscular dystrophy (DMD) is tied to several undesired effects, compromising the patient’s quality of life; hence, the use of nonsteroidal drugs is highly desirable in the treatment of DMD. Metriopharm AG is investigating the nonsteroidal drug MP-1032 for DMD and recently presented data from studies in a model of DMD.
Psoriatic arthritis mutilans (PAM) is a rare variant and the most severe form of psoriatic arthritis where patients present erosions of the small joints and osteolysis leading to joint disruption and shortening of one or more digits. To date, no susceptibility genes have been determined.
Genescience Pharmaceuticals Co. Ltd. has described cannabinoid CB2 receptor agonists reported to be useful for the treatment of arthritis, systemic lupus erythematosus, inflammatory bowel disease, allergic contact dermatitis, colitis, autoimmune diseases and pain.
Genome sequencing has identified several single-nucleotide polymorphisms (SNPs) tied to osteoporosis, but most of them are located in noncoding regions. Investigators identified a SNP which impacted the YY2-PAPSS2 axis and risk of osteoporosis; the PAPSS2 gene encodes bifunctional 3’-phosphoadenosine 5’-phosphosulfate synthase 2.
Bleeding of unknown cause is a group of rare disorders that are still difficult to accurately diagnose. A case report on a patient with hematoma in the perineal region after her first delivery was presented.
Vandria SA has been awarded two grants totaling €3.8M (US$4.1M) from Innosuisse and Eurostars to support its two lead drug candidates addressing CNS and muscle diseases, respectively.
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