Journal article
Mitochondrial enzyme dysfunction in autism spectrum disorders; a novel biomarker revealed from buccal swab analysis
Biomarkers in medicine, v 9(10), pp 957-965
2015
PMID: 26439018
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Mitochondrial function studies in autism spectrum disorders (ASD) have detected skeletal muscle mitochondrial enzyme deficiencies in respiratory complex (RC) activities. As a muscle biopsy is expensive and invasive, we assessed RC-I and RC-IV activities in buccal swabs.
92 children with ASD and 68 controls were studied with immunocapture for RC-I and microspectrophotometry for RC-IV.
Significant RC activity deficiencies were found in 39 (42%) ASD patients (p < 0.01) and more prevalent in more severe cases. Aberrant RC overactivity was seen in 9 children. RC-I/RC-IV activity ratio was significantly increased in 64% of the entire ASD cohort including 76% of those more severely affected (p < 0.05).
Buccal swab analysis revealed extensive RC abnormalities in ASD providing a noninvasive biomarker to assess mitochondrial function in ASD patients.
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Details
- Title
- Mitochondrial enzyme dysfunction in autism spectrum disorders; a novel biomarker revealed from buccal swab analysis
- Creators
- Michael J Goldenthal - St. Christopher's Hospital for ChildrenShirish Damle - Drexel UniversitySudip Sheth - Drexel UniversityNidhi Shah - Drexel UniversityJoseph Melvin - St. Christopher's Hospital for ChildrenReena Jethva - St. Christopher's Hospital for ChildrenHuntley Hardison - Section of Neurology, St. Christopher's Hospital for Children, Department of Pediatrics, Drexel University College of Medicine, Philadelphia, PA 19134, USAHarold Marks - The Center for Neurological and Neurodevelopmental Health, Gibbsboro, NJ, USA.Agustin Legido - St. Christopher's Hospital for Children
- Publication Details
- Biomarkers in medicine, v 9(10), pp 957-965
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Pediatrics; School of Biomedical Engineering, Science, and Health Systems
- Web of Science ID
- WOS:000363256600004
- Scopus ID
- 2-s2.0-84945249489
- Other Identifier
- 991019169906804721
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- Web of Science research areas
- Medicine, Research & Experimental