Analysis and functional characterization of sequence variations in ligand binding domain of thyroid hormone receptors in autism spectrum disorder (ASD) patients.
New thyroid receptor gene variants show up in some Indian children with autism, adding thyroid biology to the autism work-up list.
01Research in Context
What this study did
Kumar and colleagues looked at DNA from 30 Indian children with autism.
They focused on genes that make thyroid hormone receptors.
The lab tested every part of the receptor that grabs the hormone.
What they found
The team spotted new spelling changes in the receptor genes.
These changes had never been reported before.
The study did not test if the changes changed behavior or treatment response.
How this fits with other research
A 2006 study by A et al. found that kids with autism who lose skills are twice as likely to have family members with thyroid disease.
That paper looked at family history, not genes, so the two studies point to the same body system in different ways.
Lemons et al. (2015) used the same gene-hunting method but searched melatonin genes in children with sleep problems.
Both papers show that scanning single pathways can turn up new variants, yet neither proves the variant changes behavior.
Why it matters
You now have one more reason to ask about thyroid history during intake.
If parents mention thyroid disease, consider a medical referral.
The new variants are not ready for routine genetic testing, but they give doctors fresh leads to explore.
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02At a glance
03Original abstract
UNLABELLED: Autism spectrum disorder (ASD) is a neuro developmental disorder, reported to be on a rise in the past two decades. Thyroid hormone-T3 plays an important role in early embryonic and central nervous system development. T3 mediates its function by binding to thyroid hormone receptors, TRα and TRβ. Alterations in T3 levels and thyroid receptor mutations have been earlier implicated in neuropsychiatric disorders and have been linked to environmental toxins. Limited reports from earlier studies have shown the effectiveness of T3 treatment with promising results in children with ASD and that the thyroid hormone levels in these children was also normal. This necessitates the need to explore the genetic variations in the components of the thyroid hormone pathway in ASD children. To achieve this objective, we performed genetic analysis of ligand binding domain of THRA and THRB receptor genes in 30 ASD subjects and in age matched controls from India. Our study for the first time reports novel single nucleotide polymorphisms in the THRA and THRB receptor genes of ASD individuals. Autism Res 2017, 10: 1919-1928. ©2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Thyroid hormone (T3) and thyroid receptors (TRα and TRβ) are the major components of the thyroid hormone pathway. The link between thyroid pathway and neuronal development is proven in clinical medicine. Since the thyroid hormone levels in Autistic children are normal, variations in their receptors needs to be explored. To achieve this objective, changes in THRA and THRB receptor genes was studied in 30 ASD and normal children from India. The impact of some of these mutations on receptor function was also studied.
Autism research : official journal of the International Society for Autism Research, 2017 · doi:10.1002/aur.1838