The AMP-activated protein kinase (AMPK) is a sensor of metabolic stress and a key mediator in preserving metabolic homeostasis both at the cellular and organism levels. AMPK activation is considered a targetable mechanism for diseases associated with metabolic perturbations, such as diabetes, obesity, fatty liver disease and cancer, among others. However, the regulators of AMPK that antagonize AMPK activators remain unknown, although they are critical to efficiently target AMPK activation for therapeutic purposes.
Phenylketonuria (PKU) is an autosomal recessive disorder where the primary catabolic pathway for phenylalanine (Phe) is disrupted due to mutations in the gene encoding PAH. Elevated Phe levels lie behind several neuropathologic anomalies that can lead to severe and irreversible mental retardation, if untreated.
Genome sequencing is a successful approach for simultaneously detecting both copy number variants and sequence variants in genes involved in autosomal recessive diseases.
Body mass index (BMI), which is calculated from height and weight, and its relationship to health is a hotly debated area of health. On the one hand, “it’s cheap, it’s intuitive, it’s noninvasive and easy to calculate,” Noa Rappaport told BioWorld. “But it misses a lot.” In the March 20, 2023, online issue of Nature Medicine, Rappaport’s group describes an alternative measure, which they have termed the biological BMI, that “better reflects metabolic health than traditional BMI,” said Rappaport, who is a senior research scientist at the Institute for Systems Biology and the paper’s corresponding author.
Acid sphingomyelinase deficiency (ASMD) is a progressive lysosomal storage disease caused by autosomal recessive pathogenic variants in the SMPD1 gene encoding acid sphingomyelinase (ASM). In a recent study, researchers from Albert Einstein College of Medicine aimed to assess the levels of plasma lyso-sphingomyelin, a deacylated form of sphingomyelin, in patients with ASMD pre- and post-treatment with olipudase alfa (recombinant-human acid sphingomyelinase).
Research at Medshine Discovery Inc. has led to the development of imidazocyclic compounds acting as glucagon-like peptide 1 receptor (GLP-1R) agonists potentially useful for the treatment of diabetes.
Senya Pharmaceuticals Inc. has patented thyroid hormone receptor beta (TR-β) agonists reported to be useful for the treatment of dyslipidemia, hypercholesterolemia, nonalcoholic fatty liver disease (NAFLD), nonalcoholic steatohepatitis (NASH) and liver disease.
The Texas Heart Institute Center for Cardiovascular Care has divulged piperazine-based integrin αLβ2 (LFA-1) and/or integrin α4β1 (ITGA4; VLA-4) agonists reported to be useful for the treatment of diabetes, infertility, pulmonary hypertension, renal failure, myocardial infarction, spinal cord injury, pulmonary fibrosis and Parkinson's diseases.
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