پاورپوینت امیدهایی جهت درمان بیماری SMA بادارویSpinraza و ژن تراپی بااستفاده از آدنوویروس
15اسلایدبه زبان انگلیسی
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
•Spinal muscular atrophy (SMA) is a severe childhood monogenic disease resulting from loss or dysfunction of the gene encoding survival motor neuron 1 (SMN1)
•The incidence of this disease is approximately 1 in10,000 live births, with a carrier frequency of 1 in 54.
•SMA is characterized by the degeneration and loss of lower motor neurons, which leads to muscle atrophy. The disease is divided into four subtypes (1 through 4) on the basis of the age at onset and milestone achievement.
•SMA type 1 (SMA1) is the most severe form and most common genetic cause of death among infants.
•SMN1 is the primary gene responsible for functional production of SMN protein .SMN2 preferentially excludes exon 7 during Splicing and, as a result, produces only a small fraction of functional SMN protein as compared with SMN1.
•Infants with SMN1 biallelic deletions and two copies of SMN2 have a 97% risk of SMA1.