Modeling anorexia nervosa: transcriptional insights from human iPSC-derived neurons

Negraes, P. D., Cugola, F. R., Herai, R. H., Trujillo, C. A., Cristino, A. S., Chailangkarn, T., Muotri, A. R. and Duvvuri, V. (2017) Modeling anorexia nervosa: transcriptional insights from human iPSC-derived neurons. Translational Psychiatry, 7 . doi:10.1038/tp.2017.37


Author Negraes, P. D.
Cugola, F. R.
Herai, R. H.
Trujillo, C. A.
Cristino, A. S.
Chailangkarn, T.
Muotri, A. R.
Duvvuri, V.
Title Modeling anorexia nervosa: transcriptional insights from human iPSC-derived neurons
Journal name Translational Psychiatry   Check publisher's open access policy
ISSN 2158-3188
Publication date 2017-03-01
Year available 2017
Sub-type Article (original research)
DOI 10.1038/tp.2017.37
Open Access Status DOI
Volume 7
Total pages 10
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Language eng
Abstract Anorexia nervosa (AN) is a complex and multifactorial disorder occurring predominantly in women. Despite having the highest mortality among psychiatric conditions, it still lacks robust and effective treatment. Disorders such as AN are most likely syndromes with multiple genetic contributions, however, genome-wide studies have been underpowered to reveal associations with this uncommon illness. Here, we generated induced pluripotent stem cells (iPSCs) from adolescent females with AN and unaffected controls. These iPSCs were differentiated into neural cultures and subjected to extensive transcriptome analysis. Within a small cohort of patients who presented for treatment, we identified a novel gene that appears to contribute to AN pathophysiology, TACR1 (tachykinin 1 receptor). The participation of tachykinins in a variety of biological processes and their interactions with other neurotransmitters suggest novel mechanisms for how a disrupted tachykinin system might contribute to AN symptoms. Although TACR1 has been associated with psychiatric conditions, especially anxiety disorders, we believe this report is its first association with AN. Moreover, our human iPSC approach is a proof-of-concept that AN can be modeled in vitro with a full human genetic complement, and represents a new tool for understanding the elusive molecular and cellular mechanisms underlying the disease.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
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