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A new epigenetic editing technique has restored the functionality of neurons in Rett syndrome (RTT), a rare neurodevelopmental disease associated with a mutation of the MECP2 gene on the X chromosome. The origin of this disorder is a heterozygous mutation of the MECP2 (methyl CpG-binding protein 2) gene. Homozygosity is lethal and as it is associated with the X chromosome; Rett mostly affects girls, inhibiting the development of their motor skills and communication.
Recently, it has been found that loss-of-function of TPC2 alkalized melanosomes promoted pigmentation, while gain-of-function of TPC2 acidified melanosomes and inhibited melanin synthesis.
“Short-lived organisms represent a fundamentally different evolutionary strategy, and the idiosyncrasies influencing their aging may not apply to longer-lived models, including humans,” researchers from Harvard Medical School wrote in the Jan. 11, 2023, issue of Science Advances.
In their paper, the authors reported insights into the genomics of longevity that took advantage of an unusual animal model: rockfish.
To deeply investigate the potential role of UTX in neurogenesis, scientists have developed a KDM6A-deficient murine model in neural stem/progenitor cells (NSPCs).
Los Angeles is one of the most diverse cities in the U.S. This diversity is evident at University of California, Los Angeles (UCLA), a university that attracts students (37,000) and workers (22,090) from 118 countries. It is enough to go for a walk on campus or its surroundings to believe that one is at a United Nations convention. Researchers at the UCLA ATLAS Community Health Initiative has been capturing that diversity in a genomic biobank whose data will help to understand, anonymously, the genetic basis of certain diseases. With them, scientists will be able to design the best treatments for these patients.
Researchers from Beam Therapeutics Inc. presented the discovery and preclinical evaluation of an engineered stem cell antibody paired evasion (ESCAPE) strategy for antibody (Ab)-mediated autologous hematopoietic stem cell (HSC) therapy conditioning for the treatment of hemoglobinopathies.
Ventus Therapeutics Inc. has nominated a potential first-in-class cyclic GMP-AMP synthase (cGAS) inhibitor, VENT-03, as the company’s first development candidate directed against cGAS.
Alagille syndrome (ALGS) is a rare JAG1 (encodes for a Notch ligand) autosomal dominant disease affecting approximately 1 in 30,000-40,000 individuals. ALGS developmental defects cause an absence of bile ducts (intrahepatic duct paucity, IHDP) with an inability to transport bile from the liver to bile ducts (cholestasis) as well as heart problems.
The sex-determining region Y (SRY)-related HMG-box, group E (SOXE) transcription factors SOX9 and SOX10 are essential for the specification and differentiation of many progenitor cell types and for the development of several organs and tissues.
Israeli researchers have created cell lines, using cells donated by an individual with Klinefelter syndrome, that had different combinations of sex chromosomes but were otherwise isogenic. As reported in Stem Cell Reports on Nov. 24, 2022, lead investigator Benjamin Reubinoff, a clinician and professor in obstetrics and gynecology at Hadassah Hebrew University in Jerusalem, and team used cells donated from a mosaic Klinefelter syndrome patient to create the cell-based model. Patients with Klinefelter syndrome appear male, but have an extra X chromosome.
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