Ultra-structural hair alterations in Friedreich's ataxia: A scanning electron microscopic investigation

KAFA F. P., Kasirga U. B., ÇELİK H. H.

Microscopy Research and Technique, vol.78, no.8, pp.731-736, 2015 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 78 Issue: 8
  • Publication Date: 2015
  • Doi Number: 10.1002/jemt.22531
  • Journal Name: Microscopy Research and Technique
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.731-736
  • Keywords: Friedreich's ataxia, Hair, Scanning electron microscopy, Ultra-structure
  • Anadolu University Affiliated: No


Friedreich's ataxia (FRDA) is an autosomal recessive inherited disorder involving progressive damage to the central and peripheral nervous systems and cardiomyopathy. FRDA is caused by the silencing of the FXN gene and reduced levels of the encoded protein, frataxin. Frataxin is a mitochondrial protein that functions primarily in iron-sulfur cluster synthesis. Skin disorders including hair abnormalities have previously been reported in patients with mitochondrial disorders. However, to our knowledge, ultra-structural hair alterations in FRDA were not demonstrated. The purpose of this study was to determine ultra-structural alterations in the hairs of FRDA patients as well as carriers. Hair specimen from four patients, who are in different stages of the disease, and two carriers were examined by scanning electron microscope. Thin and weak hair follicles with absence of homogeneities on the cuticular surface, local damages of the cuticular layer, cuticular fractures were detected in both carriers and patients, but these alterations were much more prominent in the hair follicles of patients. In addition, erosions on the surface of the cuticle and local deep cavities just under the cuticular level were observed only in patients. Indistinct cuticular pattern, pores on the cuticular surface, and presence of concavities on the hair follicle were also detected in patients in later stages of the disease. According to our results, progression of the disease increased the alterations on hair structure. We suggest that ultra-structural alterations observed in hair samples might be due to oxidative stress caused by deficient frataxin expression in mitochondria.