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PIEZO1 loss-of-function compound heterozygous mutations in the rare congenital human disorder Prune Belly Syndrome

Amado, Nathalia G., Nosyreva, Elena D., Thompson, David, Egeland, Thomas J., Ogujiofor, Osita W., Yang, Michelle, Fusco, Alexandria N., Passoni, Niccolo, Mathews, Jeremy, Cantarel, Brandi, Baker, Linda A., Syeda, Ruhma·2024·Nature Communications
DOI 10.1038/s41467-023-44594-0PMC PMC10771463
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Abstract

Prune belly syndrome (PBS), also known as Eagle-Barret syndrome, is a rare, multi-system congenital myopathy primarily affecting males. Phenotypically, PBS cases manifest three cardinal pathological features: urinary tract dilation with poorly contractile smooth muscle, wrinkled flaccid ventral abdominal wall with skeletal muscle deficiency, and intra-abdominal undescended testes. Genetically, PBS is poorly understood. After performing whole exome sequencing in PBS patients, we identify one compound heterozygous variant in the PIEZO1 gene. PIEZO1 is a cation-selective channel activated by various mechanical forces and widely expressed throughout the lower urinary tract. Here we conduct an extensive functional analysis of the PIEZO1 PBS variants that reveal loss-of-function characteristics in the pressure-induced normalized open probability (NPo) of the channel, while no change is observed in single-channel currents. Furthermore, Yoda1, a PIEZO1 activator, can rescue the NPo defect of the PBS mutant channels. Thus, PIEZO1 mutations may be causal for PBS and the in vitro cellular pathophysiological phenotype could be rescued by the small molecule, Yoda1. Activation of PIEZO1 might provide a promising means of treating PBS and other related bladder dysfunctional states.

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  • Disruptions of PIEZO1 function in human and mouse models lead to differences in digestion and iron metabolism, both related to the evolution diet phenotypes.

    “Disruptions of PIEZO1 function in human and mouse models lead to differences in digestion and iron metabolism, both related to the evolution diet phenotypes (Ma et al. 2021; Amado et al. 2024)”

    From RERconverge Expansion: Using Relative Evolutionary Rates to Study Complex Categorical Trait Evolution (2024) · cites this paper as Amado et al. 2024

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Metadata

Authors
Amado, N. G., Nosyreva, E. D., Thompson, D., Egeland, T. J., Ogujiofor, O. W., Yang, M., Fusco, A. N., Passoni, N., Mathews, J., Cantarel, B., Baker, L. A., & Syeda, R.
ORCID
Venue
Nature Communications
Publisher
Springer Science and Business Media LLC
Published
2024-01-06
Volume
15
Issue
1
ISSN
2041-1723
DOI
10.1038/s41467-023-44594-0
PMC
PMC10771463
Cited by
32
References
4
Language
en
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