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Immunoglobulin mu binding protein 2 (IGHMBP2) is a DNA/RNA helicase with a putative role in transcriptional regulation and splicing. A recessive mutation of the  Ighmbp2  gene in neuromuscular degeneration ( nmd ) mice causes progressive neurogenic atrophy of limb muscles. Affected mice show significant loss of motor neurons with large caliber axons and a moderate reduction of neurons with small caliber axons in the ventral nerve roots of the spinal cord. To investigate the role of  Ighmbp2  in the pathogenesis of neuromuscular degeneration, we generated two independent lines of transgenic mice expressing the full-length  Ighmbp2  cDNA specifically in neurons. Histopathological evaluation of L4 ventral nerve roots revealed that transgenic expression of the  Ighmbp2  cDNA prevented primary motor neuron degeneration, while restoring the normal axonal morphology and density in  nmd  mice. A similar neuronal improvement is found in mutant mice carrying the CAST/EiJ-derived modifier of  nmd  ( Mnm   C  ). Intriguingly, both the transgenic and modified  nmd  mice went on to develop a previously unobserved cardiac and skeletal myopathy. Necropsy of  nmd  mice in end-stage heart failure revealed a primary dilated cardiomyopathy with secondary respiratory failure that was confirmed by  in vivo  ECG and echocardiographic measures. Our results suggest that reduced levels of IGHMBP2 in  nmd  mice compromise the integrity and function not only of motor neurons but also of skeletal and cardiac myocytes. These findings highlight the important role of IGHMBP2 in the maintenance and survival of these terminally differentiated cell types.

Transgenic rescue of neurogenic atrophy in the nmd mouse reveals a role for Ighmbp2 in dilated cardiomyopathy