Research Paper

Fungal Smn From Aspergillus In Sma Treatment

Abstract :

SMA or Spinal Muscular Atrophy is a rare neuromuscular disorder characterized by loss of motor neurons and progressive muscle wasting, often leading to early death.The disorder is caused by a genetic defect in the SMN1 gene, which encodes SMN, a protein widely expressed in all eukaryotic cells and necessary for survival of motor neurons. Lower levels of the protein result in loss of function of neuronal cells in the anterior horn of the spinal cord and subsequent system-wide atrophy of skeletal muscles.Survival Motor Neuron (SMN) is a protein that in humans is encoded by the SMN1 and SMN2 genes. SMN is found in the cytoplasm of all animal cells and also in the nuclear gems. It functions in transcriptional regulation, telomerase regeneration and cellular trafficking. SMN deficiency, primarily due to mutations in SMN1, result in widespread splicing defects, especially in spinal motor neurons, and is one cause of Spinal Muscular Atrophy.SMN is evolutionarily conserved in the Fungi kingdom, though only fungal organisms with a great number of introns have the SMN gene.Aspergillus is a conidial fungi genus consisting of a few hundred mold species, found in various climates worldwide.Aspergillosis is the name given to a wide variety of diseases caused by infection by fungi of the genus Aspergillus. Fungal infections of the respiratory tract are considered synonymous with invasive pulmonary infections. In a research quoted in this article, side effects to inhalation of Aspergillus include elevated muscle mass within the lungs.Using Aspergillus for containing doses of Fungal SMN, or fungal SMN from different sources, could prove beneficial in SMA treatment as lower levels of SMN are the main cause for SMA and could show the effects on muscle mass witnessed in the quoted study to possibly be relevant in SMA treatment as well.

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