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Non-invasive evaluation of buccal respiratory chain enzyme dysfunction in mitochondrial disease: Comparison with studies in muscle biopsy
Journal article   Peer reviewed

Non-invasive evaluation of buccal respiratory chain enzyme dysfunction in mitochondrial disease: Comparison with studies in muscle biopsy

Michael J. Goldenthal, Teddy Kuruvilla, Shirish Damle, Leon Salganicoff, Sudip Sheth, Nidhi Shah, Harold Marks, Divya Khurana, Ignacio Valencia and Agustin Legido
Molecular genetics and metabolism, v 105(3), pp 457-462
Mar 2012
DOI: https://doi.org/10.1016/j.ymgme.2011.11.193
PMID: 22189081
Featured in Collection :   UN Sustainable Development Goals @ Drexel

Abstract

Buccal swab Mitochondrial disease Respiratory chain
Making a diagnosis of mitochondrial disease (MD) is extremely challenging and often employs the analysis of respiratory complex (RC) activities in biopsied skeletal muscle. Given both the invasive nature and expense of biopsied-muscle based testing for mitochondrial defects, buccal swab enzyme analysis has been explored as an alternative approach to the more invasive muscle biopsy. Case studies have recently suggested that buccal swabs from patients can be used to accurately assess mitochondrial enzyme activities including RC I and RC IV using a dipstick methodology combined with spectrophotometric analysis. In this study, forty patients with suspected MD who have previously been found to have significant defects in either RC I or RC IV in skeletal muscle were assessed by buccal swab analysis and compared to enzyme values obtained with unaffected controls (n=106) in the same age range. Buccal citrate synthase was used as an indicator of overall mitochondrial content, correlating well with overall buccal mitochondrial frataxin levels and was found to be elevated above control levels in 28% of the patients in this cohort. Of 26 cases with significant muscle RC I deficiency, 20 displayed significantly reduced levels of buccal RC I activity. All 7 of the patients with muscle RC IV deficiency showed significant buccal RC IV defect and 6 of the 7 patients with combined defects in muscle RC I and IV activity levels also exhibited analogous deficiencies in both buccal RC I and RC IV activities. In conclusion, the relatively high correlation (over 82%) of buccal and muscle RC deficiencies further supports the validity of this non-invasive approach as a potentially useful tool in the diagnosis of MD. ► Buccal mitochondrial respiratory complex (RC) activities can be reliably assessed. ► We assessed buccal RC levels in mitochondrial disease (MD) patients and controls. ► This MD cohort had marked deficiencies in either RC I or IV activities in muscle. ► Patient buccal data had a similar RC defect profile compared to previous muscle data. ► Correlation with muscle enzyme data supports a role for buccal tests in MD diagnosis.

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Web of Science research areas
Endocrinology & Metabolism
Genetics & Heredity
Medicine, Research & Experimental
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