Giant Axonal Neuropathy Alters the Structure of Keratin Intermediate Filaments in Human Hair

The study examined the effects of Giant Axonal Neuropathy (GAN) on keratin intermediate filaments in human hair, involving 17 individuals and 155 hair samples. Researchers used X-ray diffraction and tensile testing, finding that GAN patients had a significant decrease in specific diffraction signals (47 and 27 Å), indicating altered keratin structure. Hair from GAN patients was stiffer, stronger, and more extensible, with a higher stress at break compared to controls. These findings suggested that GAN increased positional disorder of keratin tetramers, affecting hair's structural organization and mechanical properties, and provided insights into the molecular changes associated with GAN.