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- Title
PQBP1: The Key to Intellectual Disability, Neurodegenerative Diseases, and Innate Immunity.
- Authors
Tanaka, Hikari; Okazawa, Hitoshi
- Abstract
The idea that a common pathology underlies various neurodegenerative diseases and dementias has attracted considerable attention in the basic and medical sciences. Polyglutamine binding protein-1 (PQBP1) was identified in 1998 after a molecule was predicted to bind to polyglutamine tract amino acid sequences, which are associated with a family of neurodegenerative disorders called polyglutamine diseases. Hereditary gene mutations of PQBP1 cause intellectual disability, whereas acquired loss of function of PQBP1 contributes to dementia pathology. PQBP1 functions in innate immune cells as an intracellular receptor that recognizes pathogens and neurodegenerative proteins. It is an intrinsically disordered protein that generates intracellular foci, similar to other neurodegenerative disease proteins such as TDP43, FUS, and hnRNPs. The knowledge accumulated over more than 20 years has given rise to a new concept that shifts in the equilibrium between physiological and pathological processes have their basis in the dysregulation of common protein structure-linked molecular mechanisms.
- Subjects
MEDICAL sciences; INTELLECTUAL disabilities; NEURODEGENERATION; NATURAL immunity; AMINO acid sequence; FRAGILE X syndrome
- Publication
International Journal of Molecular Sciences, 2022, Vol 23, Issue 11, p6227
- ISSN
1661-6596
- Publication type
Article
- DOI
10.3390/ijms23116227