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.
Investigators at the École Polytechnique Fédérale de Lausanne (EPFL; Swiss Federal Institute of Technology Lausanne) have identified a broad role for the fragile X mental retardation protein (FMRP) in suppressing antitumor immunity, they reported in the Nov. 18, 2022, issue of Science. The results could lead to new ways to boost antitumor immunity. Scientifically, they also provide new insights into the link between tumors and the nervous system.
Mutations in FMR1, the gene that codes for FMRP, cause fragile X syndrome, a neurodevelopmental syndrome that is characterized by mental retardation and autism-like symptoms.Previous work in the laboratory of Douglas Hanahan, who is the senior author of the Science paper, as well as by other teams had shown that FMRP levels were increased in several tumor types, and increased the chances that those tumors would metastasize.
Alport syndrome (AS) is a hereditary disease affecting type IV collagen that is caused – in 80% of cases – by the COL4A5 gene. In 10% to 20% of AS cases, a mutation cannot be detected.
Social scientists are well aware of the consequences of what’s called assortative mating, that is, the fact that marriages tend to occur between people who are similar in things such as interests, social status, education and wealth. Biologists, on the other hand, have tended to ignore it. “When studying the genetic underpinnings of correlated traits, “for mathematical convenience, we’ve assumed basically for forever that mating is random,” Richard Border told BioWorld. “Which it isn’t.”
Researchers have identified miR-124 signaling and its effects on AMPA receptor neurotransmission as a biological mechanism linking the shared risk scores of schizophrenia and bipolar disorders to their shared symptoms. The work, which appeared online in Neuron on Nov. 14, 2022, focused on schizophrenia and bipolar disorder, which are both highly heritable disorders that share substantial risk. Beyond their implications for those two specific disorders, the findings illustrate a path to connecting risk scores and behaviors via their biological link.
Researchers from Children's Hospital Los Angeles presented data from a study that linked a homozygous missense mutation in ARSK to a new subtype of the lysosomal storage disease mucopolysaccharidoses (MPS).
Modern molecular techniques have progressed to the point where sequencing can seem almost quaint. At the Basic Science Symposium of the American Association for the Study of Liver Diseases 2022 meeting (AASLD 2022), new techniques were on full display, with sessions devoted to epigenetics, microbiome analysis and spatial transcriptomics. But the first session was still on genetic variants in all their forms – rare variants, common variants and nongermline mutations.
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