As patients with Pompe disease age, they develop neurocognitive issues and impairment in their cerebral white matter, as shown in MRI scanning. To date, there are no biomarkers that reflect this disease progression in the brain. The usefulness of neurofilament light chain (NfL) was investigated for this purpose.
Glutaric acidemia type I (GA1) is caused by severe deficiency in enzyme glutaryl-CoA dehydrogenase activity, which results in an impairment on lysine catabolism. These patients have accumulation of glutaric acid and glutaryl carnitine, with loss of striatal neurons and atrophy of the frontotemporal cortex. The aim of investigators was to investigate plasma markers of neurodegeneration and inflammation, such as brain-derived neurotrophic factor (BDNF) and cathepsin D in patients (N = 6) with GA1 and matched healthy controls.
It is known that dendritic cells and innate lymphoid cells type 2 (ILC2) play key roles in allergen sensitization, and humoral factors such as complement C3a and complement C5a are highly involved in the development and severity of asthma through the binding to their receptors C3AR1 and complement C5a receptor 1 (C5AR1), respectively.
C3 glomerulopathy (C3G) is a group of rare kidney diseases characterized by complement dysregulation and predominant C3 deposition in the kidney tissue.
Working from a lead tetrahydro-beta-carboline acid product which had been found to have antimalarial properties and to act as an inhibitor of MEP, Virginia Tech and University of Georgia scientists and their collaborators synthesized related compounds.
Researchers presented data from a study that aimed to evaluate pentraxin-3 (PTX3) as a circulating marker of inflammation in patients with suspected myocarditis.
Mitochondrial disorders have shown phenotypic and genetic heterogeneity; cytochrome c oxidase assembly protein COX11 is an assembly factor that works as a copper chaperone. Previous findings have unveiled that COX11 knockdown causes a reduction in ATP production in vitro.
Immuneering Corp. has submitted an IND application to the FDA to support a phase I/IIa trial of IMM-1-104, an oral once-daily small molecule in development for the treatment of advanced RAS-mutant solid tumors.
Researchers from Italfarmaco SpA presented a new class of highly selective histone deacetylase 6 (HDAC6) inhibitors as potential candidates for the treatment of several pathologies, such as autoimmune disorders, neurodegenerative diseases, and cancer.
Analyzing RNA from blood platelets detected up to 18 different cancers, at early as well as late stages, with a specificity of 99% in asymptomatic controls. The specificity for symptomatic controls, including those who had inflammatory diseases, cardiovascular disease, or benign tumors, was 78%.
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