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Updated: Feb 4, 2026
10:45
Isolation of Human Myoblasts, Assessment of Myogenic Differentiation, and Store-operated Calcium Entry Measurement
Published on: July 26, 2017
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Impaired myogenic development, differentiation and function in hESC-derived SMA myoblasts and myotubes
Nicole Hellbach1, Suzanne Peterson2, Daniel Haehnke1
1Roche Innovation Center Basel, Roche pRED, Pharma Research & Early Development, Grenzacherstrasse, Basel, Switzerland.
Plos One
|October 11, 2018
Summary
Spinal muscular atrophy (SMA) involves muscle degeneration due to SMN1 gene loss. This study reveals that SMA muscle cells exhibit impaired development and functional deficits, offering a new model for SMA research.
Area of Science:
- Biochemistry
- Genetics
- Cell Biology
Background:
- Spinal muscular atrophy (SMA) is a severe genetic neuromuscular disorder caused by SMN1 gene mutations.
- Peripheral deficits, particularly in skeletal muscle, are increasingly recognized as critical in SMA progression.
Purpose of the Study:
- To create and characterize a novel human myogenic cell model of SMA using induced pluripotent stem cells.
- To investigate the impact of SMN1 deficiency on skeletal muscle cell development and function.
Main Methods:
- Generation of myogenic cells (myoblasts and myotubes) from SMA-affected and control human embryonic stem cell (hESC) lines.
- Characterization of myogenic markers, in vitro myogenic maturation, and functional assays including calcium signaling, glycolysis, and oxidative phosphorylation.
Main Results:
- SMA myoblasts and myotubes displayed altered myogenic marker expression, leading to impaired in vitro myogenic maturation.
- SMN1-deficient cells showed functional deficits in cholinergic calcium signaling, glycolysis, and oxidative phosphorylation.
Conclusions:
- This study establishes a new human myogenic SMA model derived from hESCs.
- The model is valuable for studying SMN depletion effects on skeletal muscle development and investigating therapeutic targets for myogenic differentiation and cellular respiration in SMA.
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