Mitochondrial disease is prevalent among children with autism spectrum disorder and may correlate with severity.

PMID: 

Biomark Med. 2015 ;9(10):957-65. Epub 2015 Oct 6. PMID: 26439018

Abstract Title: 

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

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

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