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CDH2 mutation affecting N-cadherin function causes attention-deficit hyperactivity disorder in humans and mice

Medicine and Health

CDH2 mutation affecting N-cadherin function causes attention-deficit hyperactivity disorder in humans and mice

D. Halperin, A. Stavsky, et al.

This study reveals a compelling link between familial ADHD and a missense mutation in CDH2, influencing protein maturation and behavior. Findings from CRISPR/Cas9-mutated mice mirror human ADHD symptoms, offering insights into presynaptic vesicle behavior and dopamine levels. Conducted by researchers from the Morris Kahn Laboratory of Human Genetics at Ben-Gurion University.

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Playback language: English
Abstract
Attention-deficit hyperactivity disorder (ADHD) is a common childhood-onset psychiatric disorder characterized by inattention, impulsivity and hyperactivity. This study demonstrates familial ADHD caused by a missense mutation in *CDH2*, encoding N-cadherin, affecting protein maturation. CRISPR/Cas9-mutated knock-in mice with this mutation recapitulated hyperactivity, modified by methylphenidate. Mutated mice showed impaired presynaptic vesicle clustering, attenuated transmitter release, and reduced dopamine levels. The study delineates roles for *CDH2*-related pathways in ADHD pathophysiology.
Publisher
NATURE COMMUNICATIONS
Published On
Oct 26, 2021
Authors
D. Halperin, A. Stavsky, R. Kadir, M. Drabkin, O. Wormser, Y. Yogev, V. Dolgin, R. Proskorovski-Ohayon, Y. Perez, H. Nudelman, O. Stoler, B. Rotblat, T. Lifschytz, A. Lotan, G. Meiri, D. Gitler, O. S. Birk
Tags
ADHD
CDH2
mutation
hyperactivity
dopamine
CRISPR/Cas9
neuroscience

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