Abstract
Nanopore sequencing is a laboratory technique for determining the exact sequence of nucleotides, or bases, in a DNA molecule. Third generation sequencing method has been advanced and resulting data have been examined using bioinformatics to decrease error rate. Spinal Muscular Dystrophy is a Genetic neuromuscular disorder which is recognized as spinal muscular Atrophy caused by mutation or deletion in the SMN1 gene located on 5q13, which encodes the survival motor neuron (SMN) proteins, the region is highly unstable rich in duplicated sequences. A closely related gene SMN2, modifies disease severity depending on its copy number. Nanopore sequencing plays very important role in SMA as it provides accurate differentiation of SMN1 and SMN2, detection structural variants (deletion, duplications and hybrid gene),detection of point mutations (missense and nonsense mutations) and determine copy number. Motor neuron loss occurs before development of clinical symptoms. Newborn screening helps in detection of cases early and diagnosis early. Early diagnosis effects directly on treatment which significantly improves the outcome of disease. Carrier screening and genetic counselling (families with history of SMA) also plays an important role in decreasing the incidence of Spinal Muscle Atrophy. The diagnosed cases are treated with disease –modifying therapies such as nusinersen, risdiplam and onasemnogene abeparvovec. Nanopore sequencing technology highly contributes in early diagnosis and carrier screening and are very helpful in personalized treatment strategies. Its long-read and real-time sequencing properties make it one of the most promising technologies for the future diagnosis and management of Spinal Muscular Atrophy. As accuracy, affordability and clinical validation continue to improve, nanopore sequencing is likely to become an integral component of SMA diagnosis, newborn screening, carrier detection and personalized therapeutic management.
Keywords: Spinal Muscular Atrophy, Nanopore sequencing, Bioinformatics, genetic, mutation, deletion, therapies.
