Publications by authors named "Alec J Johnstone"
Article Synopsis
- Recent research focused on spinal muscular atrophy (SMA) type 3 patients aimed to identify gene expression differences in their whole blood compared to healthy controls to find potential therapeutic targets.
- The study utilized a high-throughput gene expression profiling technology, revealing a significant downregulation in the "Regulation of Actin Cytoskeleton" pathway in SMA type 3 patients, along with confirmed decreased expression of key related genes (ROCK1, RHOA, ACTB).
- The findings indicate that SMA type 3 patients may benefit from therapies targeting the regulation of the actin cytoskeleton, since simply increasing SMN levels did not restore the normal expression of these critical genes.
Article Synopsis
- The study investigates the relationship between survival motor neuron (SMN) protein levels in blood, denervation severity, and the number of SMN2 gene copies in patients with spinal muscular atrophy (SMA).
- A cohort of 74 SMA patients was analyzed, revealing that lower muscle function (indicated by CMAP values) correlated with lower SMN levels, and that blood SMN levels differed significantly based on the number of SMN2 copies and between symptomatic and presymptomatic cases.
- The findings suggest that monitoring blood SMN levels could provide insights into disease severity, but treatments like nusinersen and gene therapy did not significantly influence these levels.
Objective: Identifying simple biomarkers that can predict or track disease progression in patients with spinal muscular atrophy (SMA) remains an unmet clinical need. To test the hypothesis that serum creatinine (Crn) could be a prognostic biomarker for monitoring progression of denervation in patients with SMA, we determined whether serum Crn concentration correlates with disease severity in patients with SMA.
Methods: We examined a cohort of 238 patients with SMA with 1,130 Crn observations between 2000 and 2016.
Objective: To determine changes in serum profiles and kidney tissues from patients with spinal muscular atrophy (SMA) type 1 compared with age- and sex-matched controls.
Methods: In this cohort study, we investigated renal structure and function in infants and children with SMA type 1 in comparison with age- and sex-matched controls.
Results: Patients with SMA had alterations in serum creatinine, cystatin C, sodium, glucose, and calcium concentrations, granular casts and crystals in urine, and nephrocalcinosis and fibrosis.
Spinal muscular atrophy (SMA) is a progressive motor neuron disease caused by loss or mutation of the survival motor neuron 1 (SMN1) gene and retention of SMN2. We performed targeted capture and sequencing of the SMN2, CFTR, and PLS3 genes in 217 SMA patients. We identified a 6.
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