Understanding the Biological Activities of Vitamin D in Type 1 Neurofibromatosis: New Insights into Disease Pathogenesis and Therapeutic Design.
Claudia RiccardiLorena PerroneFilomena NapolitanoSilvio PelusoMariarosa Anna Beatrice MelonePublished in: Cancers (2020)
Vitamin D is a fat-soluble steroid hormone playing a pivotal role in calcium and phosphate homeostasis as well as in bone health. Vitamin D levels are not exclusively dependent on food intake. Indeed, the endogenous production-occurring in the skin and dependent on sun exposure-contributes to the majority amount of vitamin D present in the body. Since vitamin D receptors (VDRs) are ubiquitous and drive the expression of hundreds of genes, the interest in vitamin D has tremendously grown and its role in different diseases has been extensively studied. Several investigations indicated that vitamin D action extends far beyond bone health and calcium metabolism, showing broad effects on a variety of critical illnesses, including cancer, infections, cardiovascular and autoimmune diseases. Epidemiological studies indicated that low circulating vitamin D levels inversely correlate with cutaneous manifestations and bone abnormalities, clinical hallmarks of neurofibromatosis type 1 (NF1). NF1 is an autosomal dominant tumour predisposition syndrome causing significant pain and morbidity, for which limited treatment options are available. In this context, vitamin D or its analogues have been used to treat both skin and bone lesions in NF1 patients, alone or combined with other therapeutic agents. Here we provide an overview of vitamin D, its characteristic nutritional properties relevant for health benefits and its role in NF1 disorder. We focus on preclinical and clinical studies that demonstrated the clinical correlation between vitamin D status and NF1 disease, thus providing important insights into disease pathogenesis and new opportunities for targeted therapy.
Keyphrases
- signaling pathway
- lps induced
- public health
- healthcare
- soft tissue
- bone mineral density
- mental health
- oxidative stress
- pi k akt
- end stage renal disease
- chronic kidney disease
- newly diagnosed
- chronic pain
- mesenchymal stem cells
- spinal cord
- health information
- long non coding rna
- squamous cell carcinoma
- pain management
- prognostic factors
- spinal cord injury
- cell proliferation
- postmenopausal women
- molecular docking
- transcription factor
- young adults
- lymph node metastasis
- patient reported outcomes
- papillary thyroid