Key result
HIBM M712T mutation is linked to 374 differentially expressed muscle genes, heavily implicating mitochondrial processes.
Population
10 HIBM patients carrying the M712T Persian Jewish founder mutation and presenting mild histological…
Design
Case-control
Authors
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Mitochondrial dysregulation may contribute to HIBM; hypothesis-generating and requires validation before any clinical implications.
Case-Control (n=20)
HIBM pathophysiology involves dysregulation of mitochondrial pathways, which may explain the slow evolution of the disorder.
Eisenberg et al. (2008) conducted a case-control in Hereditary inclusion body myopathy (HIBM) (n=20). M712T Persian Jewish founder mutation (HIBM) vs. Healthy matched controls was evaluated on Differentially expressed genes in muscle specimens. Muscle specimens from HIBM patients carrying the M712T mutation showed 374 differentially expressed genes compared to controls, with 18.6% of known mRNAs implicated in mitochondrial processes.
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