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In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration

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Testing SIPA1L2 as a modifier of CMT1A using mouse models.

George C Murray^1,2, Timothy J Hines¹, Abigail L D Tadenev¹

¹The Jackson Laboratory, Bar Harbor, ME 04609.

Biorxiv : the Preprint Server for Biology

|December 11, 2023

Summary

Researchers investigated signal-induced proliferation-associated 1 like 2 (SIPA1L2) as a modifier for Charcot-Marie-Tooth 1A (CMT1A) neuropathy. While a genetic interaction was confirmed, the overall impact of SIPA1L2 deletion on CMT1A symptoms was minimal.

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Area of Science:

Neuroscience
Genetics
Molecular Biology

Background:

Charcot-Marie-Tooth 1A (CMT1A) is a peripheral neuropathy caused by PMP22 duplication, leading to muscle weakness and sensory loss.
A genome-wide association study identified signal-induced proliferation-associated 1 like 2 (SIPA1L2) variants associated with foot dorsiflexion strength in CMT1A patients.

Approach:

Engineered mice with a SIPA1L2 deletion and crossed them with the C3-PMP22 mouse model of CMT1A.
Conducted comprehensive neuromuscular phenotyping and analyzed femoral nerve axon morphometrics.
Examined gene expression changes to infer molecular pathways, including cholesterol biosynthesis.

Key Points:

Deletion of Sipa1l2 interacted with reduced muscular endurance (wire-hang duration) in C3-PMP22 mice.
Interactions were observed in femoral nerve axon morphometrics, including myelin thickness.
Gene expression data suggested Sipa1l2's involvement in cholesterol biosynthesis, a pathway also implicated in C3-PMP22 mice.

Conclusions:

Validated a genetic interaction between Sipa1l2 deletion and CMT1A-associated phenotypes.
SIPA1L2 may play a role in modulating CMT1A neuropathy, potentially through cholesterol biosynthesis pathways.
The overall effect of Sipa1l2 deletion on the neuropathy progression was modest, suggesting it is a minor modifier.