DICER1 Mutations Implicated in Rare Childhood Cancer

Mutations in the microRNA processing enzyme DICER1 appear to the cause of the inherited form of a rare, aggressive childhood cancer called pleuropulmonary blastoma (PPB). “PPB is the first malignancy found to be directly associated with inherited DICER1 mutations, making the cancer an important model for understanding how mutations and loss of DICER1 function lead …

Read more

Possible New Avenue for Huntington Disease Treatment

Increasing the levels of a key protein (RCAN1-1L) can, in vitro, rescue cells from the toxic effects of mutant huntingtin proteins that cause Huntington disease. “Our findings allow for the possibility that controlled over-expression of RCAN1-1L might in the future be a viable avenue for therapeutic intervention in Huntington disease patients,” said Kelvin J. A. …

Read more

Novel Drug Targeted at Cancer Stem Cells Shows Promise in Pancreatic Cancer

The combination of a novel drug (tigatuzumab) directed against pancreatic cancer stem cells, and the drug (gemcitabine) currently used for the treatment of pancreatic cancer, has shown promising results in achieving tumor remission and preventing recurrence. Tigatuzumab is a humanized antibody directed against death receptor-5, which the researchers showed is overexpressed in pancreatic cancer stem …

Read more

Nine New X-Chromosome Genes Associated with Learning Disabilities

Researchers have identified nine new genes on the X-chromosome that, when mutated, are associated with learning disabilities. “We sequenced 720 out of the approximately 800 known genes on the X chromosome in more than 200 families affected by X-linked learning disabilities,” explained Professor Michael Stratton, from the Wellcome Trust Sanger Institute. “This is the largest …

Read more

Synthesis of Anti-Leukemia Compounds from South Pacific Sponge

Scientists at the Scripps Research Institute have succeeded in synthesizing kapakahines, compounds with anti-leukemia potential that are normally produced in vanishingly small quantities by the South Pacific tube-type sponge Cripbrochalina olemda. With the synthetic process in hand, it will be possible, for the first time, to produce kapakahines in quantities sufficient for thorough study of …

Read more

Origins of Deadly Prostate Cancer Traced to Single Aberrant Cell

The origins of metastatic prostate cancer cells can be traced to a single original cancer cell in individuals. This is the conclusion of a 14-year autopsy-based study of copy number variation in the cells of prostate cancer victims. The study was carried out by researchers at Johns Hopkins and collaborating institutions. The findings call into …

Read more

Possible Cell Adhesion Role for Normal Prion Protein

Scientist have reported the creation of a strong loss-of-function phenotype for the normal prion protein (PrP) in zebrafish embryos. This phenotype is characterized by the loss of embryonic cell adhesion and arrested gastrulation. The results of additional experiments indicate that the normal prion protein (1) mediates Ca+2-independent homophilic cell adhesion and signaling; and (2) modulates …

Read more

Inbreeding Role in Extinction of the Spanish Habsburg Dynasty

Statistical genetic evidence supports the history-based theory that inbreeding may have played a role in the extinction of the Spanish Habsburg dynasty (1516-1700). This is the conclusion of research reported in an April 15 article in PLoS. The Spanish Habsburg dynasty was characterized by the frequent marrige of close relatives, in such a way that uncle-niece, first cousin, and other consanguineous unions were common. The dynasty ended with the childless death of the physically and mentally disabled Charles II at the age of 39. [PLoS article]

Read more

Molecular Switch Inhibition May Aid Treatment of Deadly Brain Cancers

Inhibition of the expression of a gene called NHERF-1 may be useful in the treatment of deadly brain cancers in the class glioblastoma multiforme (GBM), according to findings published by researchers at the Translational Genomics Research Institute (TGen) and Barrow Neurological Institute in the April issue of Neoplasia. “Our findings suggest a novel mechanism defining NHERF-1 as a ‘molecular switch’ that regulates the GBM tumor cell’s ability to migrate or divide,” said Dr. Kerri Kislin, the lead author of the study. The findings will be presented during the AACR annual meeting April 18-22. [Press release]

Read more

MicroRNAs May Improve Hearing

The lack of certain critical microRNAs can result in deafness, according to findings published in the April 14 issue of PNAS. “The molecules we identified could be used as a molecular tool delivered directly into the ears of deaf people to induce regeneration of important sensory cells that would improve hearing,” one of the reporting …

Read more