SLPMeta-AnalysisMolecular autism2019

Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer.

Jaume Forés-Martos, Ferrán Catalá-López, Jon Sánchez-Valle and 13 others

PMID 31007884

WHAT IT FOUND

Autism frontal cortex gene patterns matched brain, kidney, thyroid and pancreatic cancer profiles in the same direction, and were opposite to lung and prostate cancer profiles.

Shared immune, mitochondrial and PI3K pathway changes were reported.

Key findings

01Brain, kidney, thyroid and pancreatic cancer gene expression profiles were deregulated in the same direction as autism frontal cortex profiles, while lung and prostate cancer profiles were opposite.

02ASD and cancer shared upregulated immune pathways and downregulated mitochondrial energy pathways.

03Ulcerative colitis gene profiles were deregulated in the same direction as both autism and colorectal cancer profiles.

STILL TO COME

How it was doneWhat they foundWhat it means for SLPs

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What it does not show

Only frontal cortex post-mortem tissue was analysed, so other brain regions and living patients may differ. The ASD datasets were small, had overlapping patients, and needed added control samples, which limits statistical power and generalisability. Gene expression alone does not show whether pathways are activated or inhibited. The transcriptomic associations were not ASD-specific: ulcerative colitis also matched ASD and colorectal cancer patterns. The paper reports gene-expression meta-analyses, not clinical outcomes, cancer diagnoses, behaviour, communication or treatment responses.

The easy way to misread this

Do not read this as proof that patients with autism have higher cancer risk or that mTOR inhibitors should be used to treat autism. The paper compares gene-expression patterns from small post-mortem autism brain samples with cancer samples, not patient outcomes, and the authors say further epidemiological and molecular studies are needed.

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