Top Rare Disease News of the Week—August 19, 2018
AUGUST 25, 2018
Rare Disease Report® Editorial Staff
#5: New Diagnostic Test Accurately Differentiates Diabetes Insipidus from Polyuria Polydipsia SyndromeInvestigators from the University of Basel and University Hospital Basel, in Switzerland, have found a better way to test for diabetes insipidus than the previously-used and oft-unpleasant water deprivation test.
In diabetes insipidus, pituitary glands lack the hormone vasopressin, therefore, leading to a salt content disregulation in the body. Without the ability to concentrate their urine, patients lose a lot of fluid and have to drink water constantly to prevent dehydration.
Of course, drinking water is recommended, but drinking a lot of water is rarely a remarkable feat. Drinking by the liter—a condition known as polyuria-polydipsia syndrome—can be part of a daily habit, or even stem from mental illness, but is different from diabetes insipidus due to the vasopressin deficiency.
Read more about the diabetes insipidus.
#4: UB25 Protein May Reduce Neurodegeneration in Huntington’s DiseaseA mechanism capable of blocking the accumulation of toxin protein aggregates responsible for neurodegeneration in Huntington’s disease has been identified by investigators at the University of Cologne’s Cluster of Excellence for Aging Research (CECAD).
By examining the underlying mechanisms of the rare disease, investigators were able to identify a protein, referred to as UBR5, a ubiquitin ligase which serves as a protective mechanism for cells and encourages the degradation of mutant huntingtin.
For the study, published in the journal Nature Communications, the investigative team utilized induced pluripotent stem cells (iPSC) derived from patients with Huntington’s disease, which can undergo unlimited self-renewal while maintaining their ability to differentiate into any cell type, such as neurons; iPSCs exhibit a striking ability to avoid the toxic aggregation of polyQ-expanded huntingtin (HTT), the mutant protein underlying Huntington’s disease.
Read more about the UBR5 protein.
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