8 research outputs found
SMN transcript concentrations in SMA and Control subjects.
<p>A,C: SMN2-FL, SMN-FL and Total SMN transcripts generally increase with SMA Type. SMN-FL (A) is a sum of SMN1-FL (present only in healthy controls) and SMN2-FL. B: SMN-Δ7 expression levels are lower in Type I patients compared to other SMA Types but they are similar to that of Controls. D: Ratios of SMN2-FL to SMN- Δ7 differ between SMA Types and Controls, however differences between SMA Types are absent with the exception of Type II versus Type III patients. E: GAPDH transcript levels are elevated in SMA Type I and Controls relative to Type II and III patients.</p
SMN protein levels in SMA and Control Subjects.
<p>While SMN protein levels are lower in SMA relative to Control subjects, protein levels by SMA type are not statistically different from each other.</p
SMA and Control Subjects’ Clinical Data.
*<p>ANOVA for continuous variables; Fisher exact test for categorical variables.</p><p>Legend: There were no significant differences in age or gender across the recruitment cohorts. The Modified Hammersmith Motor Function Scale differentiated between SMA subjects and controls and between Type I, II and III subjects.</p
Summary of SMN associations: Pairwise analysis between various SMA groups.
<p>The “Between SMA types” column includes the following comparisons: Type I vs Types II+III, Type I vs Type II, Type I vs Type III, Type II vs Type III.</p
Modified Hammersmith Functional Motor Scale versus age by SMA cohort.
<p>Scores for the MHFMS were well-distributed by age across the enrollment cohorts. It should be noted that not all control individuals achieved a score of 40 on the scale, while all Type I SMA subjects were assigned scores of zero in the assessment.</p
SMA and Controls SMN Transcripts, Protein and Copy Number.
<p>Mean and median values of SMN transcripts, protein and copy number for SMA Type I, II, III and Controls. Transcript values are presented as number of molecules per ng of total RNA (mol/ng).</p
Associations between SMN2 copy number, SMN2 full-length transcript, SMN protein and MHFMS.
<p>The “SMN2 copy number” and “SMN-FL transcript” columns include the partial correlation analysis for SMA+Controls, SMA (all SMA patients), Type I, Type II, Type III, Controls. The “MHFMS” column includes the analysis for Type II, Type III and Type II+Type III with exclusion from the analysis of subjects having minimum or maximum scores.</p>*<p>Correlation was only found for the SMA group (r = 0.33, p = 0.001) and Type II group (r = 0.41, p = 0.008).</p
SMN2 copy number relationship to age, and by SMA Type or Control.
<p>Subjects with each SMA type are broadly distributed across the age range, with the exception of type I SMA for whom there is some bias to younger age. As a consequence, SMN2 copy numbers are also broadly distributed. Values have been plotted with a small y-axis offset to avoid overlap of values.</p