Autism & Developmental

Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: no association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene.

Correia et al. (2006) · Journal of autism and developmental disorders 2006
★ The Verdict

Autism often brings mitochondrial red flags, but the SLC25A12 gene is not the smoking gun.

✓ Read this if BCBAs who support autistic clients with fatigue, motor delays, or frequent illness.
✗ Skip if Clinicians only addressing purely behavioral targets with no medical overlap.

01Research in Context

01

What this study did

Doctors drew blood from 210 autistic people. They checked for signs that the cell batteries, the mitochondria, were sick.

They also looked at one gene, SLC25A12, that moves fuel into those batteries. They asked: do autistic kids carry broken copies of this gene?

02

What they found

Most samples showed mitochondrial trouble—think low battery alarms.

Yet the SLC25A12 gene looked normal in almost everyone. The gene is not the switch that causes the power outage.

03

How this fits with other research

Two years later Porter et al. (2008) saw the opposite. In Finnish families the same gene variant went hand-in-hand with autism. The clash sits in how each team hunted: Catarina scanned the whole gene for any glitch, while A et al. zeroed in on one tiny SNP in families.

Older work backs the battery problem. Burack et al. (2004) already found low carnitine—another fuel gauge—in autistic kids. Catarina widened the panel and still saw red lights.

Nickel et al. (2023) carried the hunt into adults. Their ASD group had lower lactate and CK, not higher. Age and support level change the metabolic picture, so one size does not fit all.

04

Why it matters

You can’t fix mitochondria by testing one gene. If a child shows fatigue, low muscle tone, or odd lab spikes, order a full metabolic work-up, not just SLC25A12. Track carnitine, lactate, alanine, and ammonia. Share results with the pediatrician; some kids feel better with carnitine or B-vitamin boosts. Keep watching—today’s normal gene can still sit in a tired cell.

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Add a quick parent hand-out listing common mitochondrial red flags so they can ask the doctor for labs.

02At a glance

Intervention
not applicable
Design
case series
Sample size
210
Population
autism spectrum disorder
Finding
not reported

03Original abstract

In the present study we confirm the previously reported high frequency of biochemical markers of mitochondrial dysfunction, namely hyperlactacidemia and increased lactate/pyruvate ratio, in a significant fraction of 210 autistic patients. We further examine the involvement of the mitochondrial aspartate/glutamate carrier gene (SLC25A12) in mitochondrial dysfunction associated with autism. We found no evidence of association of the SLC25A12 gene with lactate and lactate/pyruvate distributions or with autism in 241 nuclear families with one affected individual. We conclude that while mitochondrial dysfunction may be one of the most common medical conditions associated with autism, variation at the SLC25A12 gene does not explain the high frequency of mitochondrial dysfunction markers and is not associated with autism in this sample of autistic patients.

Journal of autism and developmental disorders, 2006 · doi:10.1007/s10803-006-0138-6