Monday, May 25, 2026

A phosphorylated variant of the mast/stem cell growth factor receptor KIT is upregulated in dorsal root ganglia of Friedreich ataxia

Koeppen AH, Mazurkiewicz JE, Feustel PJ, Pelech S, Sutter C, Fu Q, Lin Q. A phosphorylated variant of the mast/stem cell growth factor receptor KIT is upregulated in dorsal root ganglia of Friedreich ataxia. Histol Histopathol. 2026 May 20:25093. doi: 10.14670/HH-25-093. Epub ahead of print. PMID: 42158966. 

Friedreich ataxia (FA) causes hypoplasia of nerve cells in dorsal root ganglia (DRG). Beyond hypoplasia, however, the lesion in DRG includes disorganization and proliferation of satellite cells, formation of residual nodules, and neuronophagia. 

KIT is a proto-oncogenic protein with prominent roles in hematopoiesis including mast cell proliferation. In conclusion, proteomic analysis confirms the prominent participation of a new truncated KIT in satellite cells in the pathogenesis of FA in DRG.