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

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dc.authorid0000-0002-7415-3152en_US
dc.authorid0000-0002-7909-7604en_US
dc.contributor.authorTurkmenoglu, F. Pinar
dc.contributor.authorKasirga, U. Baran
dc.contributor.authorCelik, H. Hamdi
dc.date.accessioned2024-07-12T21:52:07Z
dc.date.available2024-07-12T21:52:07Z
dc.date.issued2015en_US
dc.departmentMaltepe Üniversitesien_US
dc.description.abstractFriedreich'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. Microsc. Res. Tech. 78:731-736, 2015. (c) 2015 Wiley Periodicals, Inc.en_US
dc.identifier.doi10.1002/jemt.22531
dc.identifier.endpage736en_US
dc.identifier.issn1059-910X
dc.identifier.issn1097-0029
dc.identifier.issue8en_US
dc.identifier.pmid26138268en_US
dc.identifier.scopus2-s2.0-84937738493en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage731en_US
dc.identifier.urihttps://dx.doi.org/10.1002/jemt.22531
dc.identifier.urihttps://hdl.handle.net/20.500.12415/8348
dc.identifier.volume78en_US
dc.identifier.wosWOS:000358332300012en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherWILEYen_US
dc.relation.ispartofMICROSCOPY RESEARCH AND TECHNIQUEen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.snmzKY02923
dc.subjectFriedreich's ataxiaen_US
dc.subjectscanning electron microscopyen_US
dc.subjecthairen_US
dc.subjectultra-structureen_US
dc.titleUltra-structural hair alterations in Friedreich's ataxia: A scanning electron microscopic investigationen_US
dc.typeArticle
dspace.entity.typePublication

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