A pioneering European initiative, RESTORE VISION, is spearheading the development of innovative treatments for rare ocular disorders. This ambitious project, funded by the European Commission with €8 million, unites six research institutions, three small and medium enterprises (SMEs), and patient organizations. The collaborative effort aims to enhance eye health and improve the quality of life for individuals affected by these conditions.
The Ocular Neurobiology laboratory at the Institute for Neurosciences, a joint center of Miguel Hernández University in Elche and the Spanish National Research Council, plays a pivotal role in this endeavor. Researchers have made significant strides in understanding corneal sensitivity and nerve regeneration. They have identified key neurons involved in detecting temperature changes on the eye's surface and developed an experimental model to study nerve recovery in the cornea. These advancements hold promise for developing treatments that can restore normal function to the immune, vascular, and nervous systems of the ocular surface.
Among the seven rare diseases being studied, aniridia stands out as a condition affecting one in every 80,000 people. Characterized by the partial or complete absence of the iris, aniridia can lead to severe complications like cataracts, glaucoma, and blindness. While there is currently no cure, early intervention through visual stimulation and specialized lenses can help manage symptoms and improve patients' quality of life. The RESTORE VISION project also focuses on neurotrophic keratopathy and other rare ocular surface diseases, aiming to identify existing drugs and develop new therapies.
Recent studies from the Ocular Neurobiology laboratory provide valuable insights into the functioning of cold-sensitive trigeminal neurons in the cornea. Understanding how these neurons operate could be crucial for designing treatments that restore nerve function in patients with rare eye diseases. Additionally, the lab has created a novel method to study nerve regeneration using controlled lesions in adult mice, which may offer clues about nerve recovery in humans.
The RESTORE VISION project is progressing towards clinical trials, with documents being finalized for submission to ethics committees and regulatory bodies. This collective effort brings together scientists, medical professionals, and industry leaders to transform the treatment landscape for rare eye diseases. By accelerating access to medical innovations, RESTORE VISION ensures that groundbreaking therapies reach those who need them most, fostering hope and improving lives.
A team of researchers from prestigious institutions has embarked on an in-depth exploration of postnatal heart development using a multi-omics approach. This comprehensive study delves into various molecular changes occurring during this critical period. By analyzing global proteomics, lactylation patterns, and RNA sequencing, the scientists have uncovered significant alterations that take place in the early weeks following birth. Notably, they observed substantial shifts in protein levels, lactylation, and gene expression linked to energy and nucleic acid metabolism within the first six weeks after birth. These changes stabilize after the sixth week, providing valuable insights into the developmental processes.
The research also highlights contrasting trends in histone and non-histone lactylation levels over time. Non-histone lactylation progressively accumulates from one week to six months post-birth, while histone lactylation rapidly decreases during the initial six-week period. Pathway analysis further revealed that proteins involved in the TCA cycle and respiratory electron transport pathways significantly increased between the first and sixth weeks. Conversely, proteins associated with pre-mRNA processing decreased during the same period. This shift indicates a transition from transcriptional regulation to enhanced energy metabolism as the heart matures.
The findings underscore the importance of specific molecular regulators in cardiac development. For instance, histone 4 lysine 12 lactylation (H4K12la) emerges as a crucial upstream regulator influencing gene expression related to DNA replication and cell phenotype. The study demonstrates how H4K12la affects key genes like Mex3b, Vstm5, Rfc3, and E2f2, which play vital roles in osteogenic differentiation, dendritic spine development, Wnt/β-catenin signaling, and cell cycle regulation. These results provide a foundation for understanding the mechanisms behind cardiac maturation and suggest potential therapeutic targets for heart disease and repair.
This groundbreaking research offers new perspectives on the functional role of non-histone lactylation and Kla in cardiac development. The pivotal role of H4K12la in regulating downstream genes underscores its potential as a target for inducing cardiac regeneration. Such discoveries pave the way for innovative strategies to enhance heart health and address cardiovascular diseases. The implications of this work extend beyond basic science, offering hope for future clinical applications and treatments.