Buccal Cell Micronucleus Frequency Is Significantly Elevated in Patients with Spinocerebellar Ataxia Type 2

Spinocerebellar ataxia type 2 (SCA2) is part of a group of at least nine dominantly inherited disorders characterized by progressive degeneration of specific neuronal populations and a shared mutational mechanism involving the expansion of a CAG repeat tract in coding regions of novel genes. Efforts...

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Published in:	Archives of medical research 2017-04, Vol.48 (3), p.297-302
Main Authors:	Cuello-Almarales, Dany A., Almaguer-Mederos, Luis E., Vázquez-Mojena, Yaimé, Almaguer-Gotay, Dennis, Zayas-Feria, Pedro, Laffita-Mesa, José M., González-Zaldívar, Yanetza, Aguilera-Rodríguez, Raúl, Rodríguez-Estupiñán, Annelié, Velázquez-Pérez, Luis
Format:	Article
Language:	eng
Subjects:	Adult Age of Onset Binucleation Case-Control Studies Condensed chromatin Disease Progression Female Genomic Instability Humans Karyolysis Male Medicin och hälsovetenskap Micronuclei Micronuclei, Chromosome-Defective Micronucleus Tests Middle Aged Mouth Mucosa - ultrastructure Mutation Pyknosis Spinocerebellar ataxia type 2 Spinocerebellar Ataxias - genetics Spinocerebellar Ataxias - pathology Young Adult
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Summary:	Spinocerebellar ataxia type 2 (SCA2) is part of a group of at least nine dominantly inherited disorders characterized by progressive degeneration of specific neuronal populations and a shared mutational mechanism involving the expansion of a CAG repeat tract in coding regions of novel genes. Efforts have been made to identify biomarkers of disease progression, which would allow timely preventive therapeutic interventions. In the present study was assessed the influence of several genome instability biomarkers on SCA2 clinical severity. A case-control design was applied on exfoliated epithelial buccal cells to determine micronuclei frequency and others nuclear anomalies, using 5% Giemsa stains. The slides were analyzed under 1000X magnification and nuclei morphological anomalies were identified according to Tolbert PE, et al. (1992) and Bolognesi C, et al. (2013) criteria. It was found a highly significant increase in micronuclei frequency in cases related to age and sex-matched healthy controls (p 0.05). Our results are consistent with report previous in similar neurodegenerative diseases, and suggest that micronuclei and binucleated cells constitute potential peripheral biomarkers for SCA2. These results should be validated by other studies.
ISSN:	0188-4409 1873-5487 1873-5487