PDE10A mutations help to unwrap the neurobiology of hyperkinetic disorders.

PDE10A mutations help to unwrap the neurobiology of hyperkinetic disorders.

Publication date: Apr 02, 2019

The dual-specific cAMP/cGMP phosphodiesterase PDE10A is exclusively localised to regions of the brain and specific cell types that control crucial brain circuits and behaviours. The downside to this expression pattern is that PDE10A is also positioned to be a key player in pathology when its function is perturbed. The last decade of research has seen a clear role emerge for PDE10A inhibition in modifying behaviours in animal models of psychosis and Huntington’s disease. Unfortunately, this has not translated to the human diseases as expected. More recently, a series of families with hyperkinetic movement disorders have been identified with mutations altering the PDE10A protein sequence. As these mutations have been analysed and characterised in other model systems, we are beginning to learn more about PDE10A function and perhaps catch a glimpse into how PDE10A activity could be modified for therapeutic benefit.

Whiteley, E.L., Tejeda, G.S., Baillie, G.S., and Brandon, N.J. PDE10A mutations help to unwrap the neurobiology of hyperkinetic disorders. 06435. 2019 Cell Signal.

Concepts Keywords
Brain Striatum
CAMP Hyperkinesia
CGMP Protein domains
Huntington GAF domain
Movement Disorders PDE10A
Neurobiology Molecular biology
Pathology Neurological disorders
Phosphodiesterase Organ systems
Psychosis Brain
Branches of biology
Diseases
Movement disorders

Semantics

Type Source Name
gene UNIPROT FGF9
disease MESH psychosis
disease MESH hyperkinetic movement
gene UNIPROT CHAMP1
gene UNIPROT CAMP
gene UNIPROT PDE10A
drug DRUGBANK Cyclic Adenosine Monophosphate

Original Article

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