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Friday, March 28, 2008

Genetic Link to Autoimmune Diseases Type 1 Diabetes and Sjogren's: Hox11 gene

This fascinating paper from the Faustman lab at Harvard links a developmental gene, Hox11, to the later development of the autoimmune diseases Type 1 Diabetes and Sjogren's syndrome.

Also important, it links the hearing loss often seen in Type 1 diabetes directly to the Hox11 gene malfunction, not the later autoimmune attack.

This paper suggests that treatment of Hox11 deficiency in people with mutations could prevent Type 1 diabetes, Sjorgren's syndrome, and hearing loss.

Figure from the paper showing deterioration of the ear in Hox11 genetically modified mice:

Comparison of NOD and C57BL/6 cochlear structures. (a) A schematic area of interest in the cochlea. (b–g) Histological cross-sections of the mouse cochlea were processed and cochlear structures were compared between NOD and C57BL/6 animals at 5–8 weeks of age. Structural abnormalities were found in the spiral ganglion, spiral ligament and organ of Corti in the NOD mice. (b and c) The spiral ganglion cells of the NOD mouse were greatly deteriorated (arrow, b), relative to the C57BL/6 control (arrow, c), with only the Schwann cell nuclei remaining. (d and e) There was also atrophy of the spiral ligament, as seen by the loss of cells in the NOD specimen (arrow, d), which is in sharp contrast to the fully populated spiral ligament in the control (arrow, e). (f and g) The organ of Corti of the NOD specimen appeared to be deteriorated and to have many fewer cells (arrow, f), including hair cells, compared to the control (arrow, g). Defects similar to those observed in the NOD cochlea were present in the NOD-SCID cochlea as well.

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