bioRxiv Science⌕ Search

Biology subjects

Briseno-Roa, L.

Publications and source records attributed to Briseno-Roa, L..

3 recordsLinked to original sources

Evaluation of Prostaglandin Receptor Agonists and Eupatilin in the Context of Nephronophthisis

BackgroundPrimary cilia are sensory antennas that are present on the majority of quiescent vertebrate cells where they mediate key signaling during development and in response to environmental stimuli. Defects in primary cilia result in a group of heterogeneous inherited disorders with overlapping phenotypes, called ciliopathies. Nephronophthisis is an autosomal recessive tubulo-interstitial kidney ciliopathy with more than 25 identified genes called NPHP. Presently, no treatment exists beyond supportive care and kidney transplant, underscoring the need for novel therapies. MethodsUsing a phenotypic screening approach in cultured cell lines, we previously identified prostaglandin analogues as candidate therapeutic molecules based on their ability to rescue ciliogenesis defects in kidney tubular cells from NPHP1 patients. Here, we have investigated the potential beneficial effects of ROCK inhibitors and Eupatilin, similarly identified by other groups in different NPHP contexts, in kidney cells from NPHP1 and IQCB1/NPHP5 patients as well as in a zebrafish NPHP mutant line (traf3ip1/ift54). ResultsEupatilin partially rescued NPHP1-associated ciliogenesis defects. Transcriptomic analyses pointed out that cell cycle progression was inhibited by Eupatilin, likely explaining its broad effects on cilia assembly. Interestingly, while ciliary defects also observed in NPHP5 patient cells were rescued by both prostaglandins and Eupatilin, only prostaglandin analogues were able to reduce pronephric cysts size in the used nphp zebrafish model. ConclusionOur study indicates that these molecules can show beneficial effects across genetic contexts and shed light on their potential as therapeutic interventions for nephronophthisis.

cell biology↗

Pharmacological cAMP stimulation via prostaglandin receptors rescues ciliary defects in CEP290-deficient patient and mouse models

The retinas sensitivity to light depends on the primary cilium of photoreceptors, known as the outer segment (OS). OS defects are a primary cause of inherited retinal dystrophies (IRDs) and can also indicate wider ciliary dysfunctions. One such IRD is Leber congenital amaurosis type 10 (LCA10), which occurs as a monosymptomatic retinal disease or the presenting symptom of syndromic ciliopathies within the Senior-Loken-Joubert-Meckel spectrum. LCA10 patients are born blind but retain dormant photoreceptors for decades, offering the potential for reactivation. AAV-based gene therapies for IRDs cannot accommodate the large CEP290 gene, prompting the search for innovative treatments. LCA10 is caused by mutations in CEP290, which plays a vital role in ciliation, similar to cAMP signaling. Utilizing fibroblasts displaying variable CEP290 mutations and associated ciliary defects, we show that exposure to Taprenepag, a specific PGE2 receptor agonist, substantially stimulated cAMP synthesis and consistently improved cilia formation and elongation. We also found that intraperitoneal injection of Taprenepag in mice reached the retina and slowed retinal degeneration, promoting OS formation, and improving light sensitivity in a Cep290 mutant mouse. These findings demonstrate the potential of Taprenepag to treat the CEP290-related visual dysfunction and suggest evaluation for other CEP290-related organ issues and ciliopathies.

genetics↗

Prostaglandin E1 as therapeutic molecule for Nephronophthisis and related ciliopathies

Nephronophthisis (NPH) is an autosomal recessive tubulointerstitial nephropathy belonging to the ciliopathy disorders and known as the most common cause of hereditary end-stage renal disease in children. Yet, no curative treatment is available. The major gene, NPHP1, encodes a protein playing key functions at the primary cilium and cellular junctions. Using an in cellulo medium-throughput drug-screen, we identified 51 FDA-approved compounds and selected 11 for their physicochemical properties, including prostaglandin E1 (PGE1). PGE1 was further validated to rescue ciliogenesis in immortalized patient NPHP1-/- urine-derived renal tubular cells and corroborated by the effects of its analog PGE2. The two molecules reduced pronephric cyst occurrence in vivo in nphp4 zebrafish model, and PGE1 treatment in Nphp1-/- mice led to a significant reduction of renal tubular dilatations, partially restoring cilia length within tubules. Finally, comparative transcriptomics allowed identification of key molecules downstream PGE1. Altogether, our drug-screen strategy led to the identification of PGE1 as the first potential therapeutic molecule for NPH-associated ciliopathies. Significant statementJuvenile nephronophthisis (NPH) is a renal ciliopathy due to a dysfunction of primary cilia and a common genetic cause of end-stage renal disease in children and young adults. No curative treatment is available. This paper describes the identification of Prostaglandin E1 (PGE1) as the first potential therapeutic molecule for NPH-associated ciliopathies. We demonstrated that PGE1 rescues defective ciliogenesis and ciliary composition in NPHP1-/- patient urine-derived renal tubular cells. Furthermore, PGE1 improves ciliary and kidney phenotypes in our NPH zebrafish and Nphp1-/- mouse models. Finally, in vitro experiments as well as transcriptomic analyses pointed out several pathways downstream PGE1 as cAMP, cell-cell/cell-matrix adhesion or actin cytoskeleton. Altogether, our findings provide a new alternative for treatment of NPH.

cell biology↗