HNRNPU and Associated Diseases
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Overview of HNRNPU
In humans, heterogeneous nuclear ribonucleoprotein U (HNRNPU) is a protein product encoded by the HNRNPU gene. HNRNPU is a member of the subfamily of heterogeneous nuclear ribonucleoproteins (hnRNPs). HNRNPU has an affinity for DNA and RNA, and it will form complexes when binding heterogeneous nuclear RNA (hnRNA). HNRNPU is also involved in the formation of large ribonucleoprotein complexes via the packaging of hnRNAs. The HNRNPU proteins related to pre-mRNAs will influence the processing, metabolism, and transport of mRNA in the nucleus. More than two spliced transcript variants of HNRNPU have been identified.
HNRNPU in Disease
A series of mutations of HNRNPU have been identified and the associated diseases contain Alzheimer’s disease, epileptic encephalopathy, and intellectual disability.
- Alzheimer’s disease
MicroRNA-132-3p/HNRNPU/BACE1 axis is associated with the progression of Alzheimer’s disease (AD). Downregulation of microRNA-132-3p is identified in AD, a progressive neurodegenerative disease. HNRNPU is a target of microRNA-132-3p and regulates the mRNA stability of BACE1 by acting as an RNA-binding protein. Knock-down of HNRNPU will reduce the stability of BACE1 mRNA. Overexpression of HNRNPU will reverse the protective effect of in vitro cell model of AD caused by the miR-132-3p overexpression. Taken together, the microRNA-132-3p/HNRNPU/BACE1 axis may shed new light on the treatment of AD.
Fig.1 Knock-down of HNRNPU will decrease the mRNA and protein level of BACE1. (Qu, 2021)
- Intellectual disability
Pathogenic HNRNPU variants are associated with intellectual disability (ID). An accurate RNA splicing process is important for proper cell function and mistaken splicing may cause neurodegenerative diseases such as ID. The RNA splicing process is facilitated by the spliceosome consisting of hnRNPs and other proteins. HNRNPU, as a member of hnRNPs subfamily, is expressed in the fetal brain, adult brain, and cerebellum. Microdeletions in the chromosomal region containing HNRNPU and different kinds of HNRNPU variants such as non-sense variants and missense variants are identified in patients with ID, which indicates the correlation between HNRNPU and ID.
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References
- Qu, J.; et al. MicroRNA-132-3p alleviates neuron apoptosis and impairments of learning and memory abilities in Alzheimer’s disease by downregulation of HNRNPU stabilized BACE1. Cell Cycle. 2021, 20: 2309–2320.
- Bramswig, N. C.; et al. Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. Hum Genet. 2017, 136: 821–834.
