Undiagnosed bleeding disorders put people at risk due to bleeding without an optimal treatment strategy. Spanish researchers from the Hospital Universitario La Paz and Universidad Autónoma de Madrid have focused on the targeting of tissue factor pathway inhibitor (TFPI) as a potential approach for this medical need by using TFPI blocker antibodies.
Obesity is an important cause of death worldwide, and it is defined as a body mass index >30 kg/m2. Genome-wide association studies have been successful at identifying genomic loci tied to obesity.
Spinal-bulbar muscular atrophy (SBMA), also called Kennedy disease, is an X-linked genetic disorder in which the loss of motor neurons affects the parts of the nervous system that control voluntary muscle movement.
Insulin resistance in type 2 diabetes (T2DM) is associated with hepatosteatosis and the development of nonalcoholic fatty liver disease (NAFLD), with the pathogenesis of NAFLD being complex and involving the crosstalk between the liver and white adipose tissue (WAT).
Bone-resorbing osteoclasts are key players in bone remodeling and their dysfunction has been implicated in several bone disorders such as fibrous dysplasia. Osteoclasts derive from monocytes stimulated by several cytokines, such as M-CSF and RANKL.
The lack of dystrophin causes Duchenne muscular dystrophy (DMD), a muscle-wasting disease that is often accompanied by heart failure due to cardiomyocyte death and fibrosis that can lead to death of the patient. It has been proven that telomere shortening is a hallmark of DMD cardiomyocytes. Researchers from the Stanford School of Medicine have recently investigated whether preventing telomere shortening and attrition may be a therapeutic approach in DMD.
The interleukin-2 receptor subunit γ (IL-2RG), also known as γc cytokine receptor or CD132, family of cytokines includes interleukin-2 (IL-2), IL-4, IL-7, IL-9, IL-15 and IL-21. These γc cytokines exert broad pleiotropic effects on the innate and adaptive immune system, and they all share the IL-2RG chain as part of its signaling receptor complex. Researchers from Regeneron Pharmaceuticals Inc. aimed to assess whether targeting γc cytokines may serve as a strategy for the prevention and treatment of T-cell-mediated disease.
Several studies on the effect of hyperglycemia on malignant tumor progression have been performed; hyperglycemia is known to be a risk factor for breast cancer-related mortality, since it causes aberrant gene expression by altering the epigenome (hyperglycemic memory).
Mesotheliomas are highly aggressive cancers with short overall survival, which can be extended only by a few months with currently approved therapies. Around 60%-70% of malignant mesotheliomas present mutated or deleted BAP1 tumor suppressor. BAP1 is a catalytic subunit of the polycomb repressive deubiquitinating (PR-DUB) complex, and its loss results in epigenetic alterations.