Characterizing neuromuscular degeneration in mouse models of rare neuromuscular disease through neurogenic and myogenic attributes


Aria Ma

Document Type


Publication Date

Summer 2023



JAX Location

In: Student Reports, Summer 2023, The Jackson Laboratory


Neuromuscular degenerative diseases (nmd) can be categorized as either neurogenic or myogenic. Neurogenic nmds originate from dysfunction in the nervous system whereas myogenic nmds result from issues in the muscle tissue. Understanding the similarities and differences of genotypes and phenotypes between various neurogenic and myogenic diseases provide tools for scientists to study mutations for diagnosis and catered treatment for rare disorder pathogenesis of patients. We studied two neurogenic genes, Immunoglobulin mu binding protein 2 (Ighmbp2) and Nuclear export mediator factor (Nemf), and one myogenic gene Titan cap (Tcap) in mice models that give rise to a number of significant nmds. IGHMBP2 codes for an enzyme that functions as a helicase and is suspected to be heavily critical in neuromuscular development and maintenance. NEMF codes for a protein critical for ribosome quality control and mutations are associated with neuromuscular dysfunction and intellectual disability. TCAP encodes for a protein necessary in sarcomere assembly in muscle myofibrils. The project contributes to establishing foundations for characterizing a range of nmds within these three genes to further investigate neuromuscular disease progression, genetic mechanisms, and symptoms, thereby facilitating translation to human medicine. All models show progressive neuromuscular degeneration with some phenotypic overlaps but mostly unique pathogenesis.

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