Bethlem myopathy is a rare genetic disease caused by a variant mapped to 21q22, which harbors the collagen type VI alpha 2 chain and collagen type VI alpha 1 chain ( genes, and 2q37, which harbors the collagen type VI alpha 3 chain () gene. Disease onset can occur at any age, and the symptoms are related to those of muscular dystrophy. Since Bethlem myopathy is a rare disease, no previous studies have been conducted in Arab countries, including Saudi Arabia.
View Article and Find Full Text PDFIn the past three decades, significant improvements have occurred in the study of Duchenne muscular dystrophy (DMD). DMD is a rare, severe neuromuscular disease that causes death due to cardiovascular and respiratory complications among affected boys. Since the 1980s, ongoing preclinical and clinical studies have been conducted to explore the disease in depth and discover potential therapeutic strategies.
View Article and Find Full Text PDFLiver kinase B1 (LKB1) regulates a variety of cellular functions, including cell polarity, energy metabolism and cell growth, by targeting multiple signaling pathways such as AMPK/mTOR and p53. LKB1 functions as a tumor suppressor in sporadic cancers including lung cancer. Extracellular vesicles such as exosomes secreted by cancer cells modulate the tumor microenvironment and progression by targeting both tumor cells (autocrine actions) and other types of cells associated with tumors (paracrine actions).
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