Redefining periodic paralysis with CACNA1S mutation in a Spanish cohort.

Introduction: Muscle MRI and electrophysiological exercise testing have been reported as useful techniques in hypokalemic periodic paralysis (HypoPP). Striking clinical differences between men and women with this disorder are well known; however, little information is available on complementary tests in the asymptomatic population.

Methods: We recruited 11 individuals with HypoPP from 4 independent families, carrying the frequent p.

LncRNA levels in the central nervous system as novel potential players and biomarkers in amyotrophic lateral sclerosis.

Research in amyotrophic lateral sclerosis (ALS) faces major burdens, including the urgent need for sensitive and specific biomarkers, the identification of novel and effective therapeutic targets and a deeper understanding of the mechanisms driving the disease. In this line, long non-coding RNAs (lncRNAs) have emerged as promising candidates due to their regulatory role in a variety of important biological processes such as RNA metabolism, neuroinflammation, apoptosis or proteostasis. This study aims to elucidate the expression profile of 14 lncRNAs in both the SOD1 mouse model and ALS patients.

Circular RNA expression in ALS is progressively deregulated and tissue-dependent.

Background: There is increasing evidence on the role of circular RNAs (circRNAs) in neuronal and muscular processes. Accordingly, their dysregulation is associated with neurodegenerative diseases and myopathies. We investigated circRNA expression in the central nervous system (CNS) and skeletal muscle, the two main tissues affected in amyotrophic lateral sclerosis (ALS).

Role of Inflammatory and Proresolving Mediators in Endothelial Dysfunction.

Excessive local inflammation is a common mechanism in many cardiovascular diseases (CVDs) such as hypertension, atherosclerosis and aortic aneurysms. In endothelial cells, inflammatory cytokines such as interferons, tumour necrosis factor alpha or interleukins increase oxidative stress and contractile prostanoids and the expression of adhesion molecules that reduce nitric oxide (NO) availability and bind leucocytes, thereby impairing endothelial function. Despite this evidence, anti-inflammatory therapies are not yet indicated for the treatment of most CVD.

Identification of endoplasmic reticulum stress-associated lncRNAs influencing inflammation and VSMC function in abdominal aortic aneurysm.

Endoplasmic reticulum (ER) stress plays a critical role in the abdominal aortic aneurysm (AAA), a life-threatening disease characterized by inflammation, destructive remodeling, and vascular smooth muscle cells (VSMCs) dysfunction. The current therapy relies on surgical repair, but no effective pharmacological strategies are available to limit aneurysm progression. Long non-coding RNAs (lncRNAs) are essential factors in health and disease; however, their specific contribution to AAA development and its relationship with ER stress remain unexplored.