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Published on: August 10, 2018
Increased systemic HSP70B levels in spinal muscular atrophy infants
Eric J Eichelberger1, Christiano R R Alves1, Ren Zhang1
1Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts.
Insights
Heat Shock Protein Family A Member 7 (HSPA7), also known as heat shock 70kDa protein 7 (HSP70B), is a promising new biomarker for tracking spinal muscular atrophy (SMA) progression in infants. HSP70B levels correlate with neurofilament changes in newborns with SMA.
Area of Science:
- Biomarkers
- Genomics
- Neurology
Background:
- Spinal muscular atrophy (SMA) requires effective biomarkers for monitoring disease progression and treatment efficacy.
- Current diagnostic and monitoring tools for SMA have limitations, necessitating the discovery of novel circulating biomarkers.
Purpose of the Study:
- To identify novel circulating biomarkers for early detection and monitoring of spinal muscular atrophy (SMA) progression.
- To investigate Heat Shock Protein Family A Member 7 (HSPA7)/heat shock 70kDa protein 7 (HSP70B) as a potential biomarker in infants with SMA.
Main Methods:
- Whole-blood RNA sequencing was performed on SMA type 1 subjects under one year of age and age-matched healthy controls.
- Analysis focused on identifying differentially expressed genes and potential biomarkers associated with SMA.
Main Results:
- Heat Shock Protein Family A Member 7 (HSPA7)/heat shock 70kDa protein 7 (HSP70B) was identified as a novel candidate biomarker for early SMA progression.
- Circulating HSP70B protein levels showed a correlation with circulating neurofilament levels in newborns and infants diagnosed with SMA.
Conclusions:
- HSP70B is a potential novel biomarker for tracking early-life spinal muscular atrophy (SMA) progression.
- Further research is warranted to validate HSP70B as a biomarker and assess its response to SMA therapies.
Abstract:
Despite newly available treatments for spinal muscular atrophy (SMA), novel circulating biomarkers are still critically necessary to track SMA progression and therapeutic response. To identify potential biomarkers, we performed whole-blood RNA sequencing analysis in SMA type 1 subjects under 1 year old and age-matched healthy controls. Our analysis revealed the Heat Shock Protein Family A Member 7 (HSPA7)/heat shock 70kDa protein 7 (HSP70B) as a novel candidate biomarker to track SMA progression early in life. Changes in circulating HSP70B protein levels were associated with changes in circulating neurofilament levels in SMA newborns and infants. Future studies will determine whether HSP70B levels respond to molecular therapies.
