Understanding how alternative splicing is regulated and how it contributes to disease pathogenesis might open new therapeutic options for the treatment of diabetic nephropathy (DN). Bcl-2-like protein 1 (BCL2L1), also known as BCLX, for which two alternative splicing forms (Bcl-xL and Bcl-xS) have been seen to have antagonistic effects.
Researchers from the U.K. have investigated the specificity and sensitivity of clonidine growth hormone (GH) as a biomarker for the differential diagnosis of multiple system atrophy (MSA) from pure autonomic failure (PAF), Parkinson’s disease (PD) and progressive supranuclear palsy (PSP).
Vasoactive intestinal polypeptide receptor 1 (VIPR1) has been shown to have contradicting effects in different cancers. Researchers have investigated the association of VIPR1 with immune inhibitory components to understand its immune landscape.
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.
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.
There is still a percentage of patients with multiple myeloma (MM) who do not respond to initial therapy, and they are considered as refractory MM patients. There is a need for novel biomarkers of treatment response in refractory MM.
Atrial fibrillation (AF) is a very common diagnosed arrhythmia and catheter ablation is an effective treatment, but recurrence occurs after catheter ablation and remains a medical challenge. MicroRNAs can be easily detected in the circulation, and they are epigenetic regulators in many biological processes; their usefulness as biomarkers of risk stratification in patients with AF was investigated.
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