Friedreich’s Ataxia Patients Experience Hair Abnormalities, Study Reveals

Patrícia Silva, PhD avatar

by Patrícia Silva, PhD |

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Researchers at Hacettepe University and Maltepe University in Turkey recently reported that Friedreich’s ataxia patients experience hair alterations. The study was published in the journal Microscopy Research and Technique and is entitled “Ultra-structural hair alterations in Friedreich’s ataxia: A scanning electron microscopic investigation”.

Friedreich’s ataxia is a rare inherited neurodegenerative disease characterized by progressive damage of the nervous system with degeneration of the spinal cord and peripheral nerves that leads to muscle weakness, sensory loss, balance deficits and lack of voluntary coordination of muscle movements. The disease is caused by a mutation in a gene called frataxin (FXN) that leads to a defective expression of the frataxin protein. Disease onset is usually during childhood or adolescence and the disorder leads to progressive disability, dependence on a wheelchair and reduced life expectancy.

The frataxin protein is found in the mitochondria, small cellular organelles considered the “powerhouse” of cells, involved in iron homeostasis, iron-sulfur cluster synthesis, energy metabolism and oxidative stress (characterized by high levels of harmful free radicals). Patients with mitochondrial diseases have been previously reported to experience skin disorders including hair abnormalities.

In the study, researchers investigated for the first time ultra-structural alterations in the hair of four Friedreich’s ataxia patients at different stages of the disease and two carriers. As controls, hairs of two healthy individuals were also analyzed. Scanning electron microscopy (SEM) was used.

Researchers found that ultra-structural hair damages, although present in both groups, were more prominent in Friedreich’s patients in comparison to carriers, namely thin and weak hair follicles, damaged cuticular layer and cuticular fractures. Erosions on the surface of the cuticle and local deep cavities just under the cuticular level were only detected in Friedreich’s ataxia patients. The team reported that disease progression seemed to increase the abnormalities in hair structure. No abnormal features were found in the healthy controls.

The research team concluded that Friedreich’s ataxia patients experience ultra-structural alterations in their hairs and suggest that this might be due to the oxidative stress that is caused by deficient frataxin expression in the mitochondria. The team believes that the non-invasive and easy to perform SEM technique can be considered a valuable tool for the identification of hair alterations and potentially help in an early diagnosis of Friedreich’s ataxia.