Neetika Mishra

A Deep Dive Into Spinal Muscular Atrophy

Started Apr. 12, 2022

Abstract or project description

Neurodegeneration is the progressive decline of neurons in the brain and spinal cord. Motor neuron diseases are groups of neurological disorders destroying muscle activity by killing motor neurons in the brain and spinal cord. Alongside diseases like Amyotrophic Lateral Sclerosis and Multiple Sclerosis, Spinal Muscular Atrophy is an inherited autosomal recessive disease affecting lower motor neurons. This paper will review different Spinal Muscular Atrophy in detail including causes, effects, and potential clinical treatments. The paper will begin with a brief overview of Spinal Muscular Atrophy and its medical classifications, which are based on physical milestones and age of diagnosis. The paper will further dive into the genetic causes of Spinal Muscular Atrophy, which is caused by a mutation in the Survival Motor Neuron genes. The Survival Motor Neuron genes create proteins essential to the functionality of motor neurons, and when this gene mutates, motor neurons die which leads to muscle weakness and other symptoms. The paper continues to discuss the specific effects the lack of the Survival Motor Neuron gene has on neurons and the body. The SMN gene is involved in many pathways of the body, including ribonucleoprotein assembly, mRNA trafficking and translation, and cytoskeletal structure. A mutated SMN gene can disrupt neural growth and development in many different ways. Furthermore, this paper will review the many therapies that have been developed to treat Spinal Muscular Atrophy, including both symptomatic treatments as well as advanced gene therapies. Zolgensma and Spinraza are both different gene therapies used to treat Spinal Muscular Atrophy by editing the Survival Motor Neuron genes to produce stable protein so neural growth and development can be ensured.