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Biomark Med. 2015;9(10):957-65. doi: 10.2217/bmm.15.72. Epub 2015 Oct 6.

Mitochondrial enzyme dysfunction in autism spectrum disorders; a novel biomarker revealed from buccal swab analysis.

Author information

1
Mitochondrial Disease Laboratory, St. Christopher's Hospital for Children, Department of Pediatrics, Drexel University College of Medicine, Philadelphia, PA 19134, USA.
2
Section of Neurology, St. Christopher's Hospital for Children, Department of Pediatrics, Drexel University College of Medicine, Philadelphia, PA 19134, USA.
3
The Center for Neurological and Neurodevelopmental Health, Gibbsboro, NJ, USA.

Abstract

AIM:

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.

METHODS:

92 children with ASD and 68 controls were studied with immunocapture for RC-I and microspectrophotometry for RC-IV.

RESULTS:

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).

CONCLUSION:

Buccal swab analysis revealed extensive RC abnormalities in ASD providing a noninvasive biomarker to assess mitochondrial function in ASD patients.

KEYWORDS:

autism spectrum disorders; buccal swab; mitochondrial dysfunction; oxidative stress; respiratory complex

PMID:
26439018
DOI:
10.2217/bmm.15.72
[Indexed for MEDLINE]

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