Dataset Information
Whole blood survival motor neuron protein levels correlate with severity of denervation in spinal muscular atrophy.
Ontology highlight
ABSTRACT: Introduction
We sought to determine whether survival motor neuron (SMN) protein blood levels correlate with denervation and SMN2 copies in spinal muscular atrophy (SMA).Methods
Using a mixed-effect model, we tested associations between SMN levels, compound muscle action potential (CMAP), and SMN2 copies in a cohort of 74 patients with SMA. We analyzed a subset of 19 of these patients plus four additional patients who had been treated with received gene therapy to examine SMN trajectories early in life.Results
Patients with SMA who had lower CMAP values had lower circulating SMN levels (P = .04). Survival motor neuron protein levels were different between patients with two and three SMN2 copies (P < .0001) and between symptomatic and presymptomatic patients (P < .0001), with the highest levels after birth and progressive decline over the first 3 years. Neither nusinersen nor gene therapy clearly altered SMN levels.Discussion
These data provide evidence that whole blood SMN levels correlate with SMN2 copy number and severity of denervation.
SUBMITTER: Alves CRR
PROVIDER: S-EPMC7496476 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
Publications
Whole blood survival motor neuron protein levels correlate with severity of denervation in spinal muscular atrophy.
Muscle & nerve 20200702 3
<h4>Introduction</h4>We sought to determine whether survival motor neuron (SMN) protein blood levels correlate with denervation and SMN2 copies in spinal muscular atrophy (SMA).<h4>Methods</h4>Using a mixed-effect model, we tested associations between SMN levels, compound muscle action potential (CMAP), and SMN2 copies in a cohort of 74 patients with SMA. We analyzed a subset of 19 of these patients plus four additional patients who had been treated with received gene therapy to examine SMN traj ...[more]
