Researchers at OHSU produced mice lacking the WAVE-1 protein, showing balance, motor, learning and memory deficits. The study suggests that mental retardation involves many more areas of the brain than initially thought.
Researchers found that FMRP associates with RNAi-related cellular machinery, suggesting a possible role for RNAi in regulating gene expression. This discovery may lead to an entirely new field of molecular human genetics, shedding light on the genetic causes of fragile X syndrome.
Researchers at Clemson University have identified a single gene, AGTR2, that may trigger mental retardation in males when it is abnormal. The study found mutations in eight male patients with unexplained mental retardation, offering new insights into the causes of brain development disorders.
A single gene on the X chromosome, AGTR2, has been linked to mental retardation. The discovery could lead to new therapies and insights into normal brain development.
Researchers from Women's and Children's Hospital, Adelaide have identified a major gene responsible for both intellectual disability and epilepsy. The new gene is found on the X-chromosome and acts as a master gene controlling other genes' function, contributing to normal brain cognitive function.
Researchers at Rockefeller University have discovered that FMRP controls the fate of specific proteins in brain cells, explaining the physical, cognitive, and behavioral abnormalities characteristic of fragile X syndrome. The findings offer potential for future therapies to lessen the disease's impact.
A 10-year-old study found that early childhood anemia can lead to poor school performance and mild to moderate mental retardation. The research strengthens the need for effective identification and treatment of iron deficiency in early childhood.
Researchers identified a strong association between a 12 bp mutation in a newly discovered X-chromosome gene and X-linked mental retardation. The mutation was found in 7 percent of all institutionalized mentally retarded males surveyed, as well as in higher frequency among those with Autism.
The study provides evidence that FMRP is transported into the cell's nucleus where it forms a complex with particular mRNAs and then is transported out of the nucleus to join ribosomes in the neuronal cytoplasm. The researchers discovered that free ribosomes, found in dendrites and dendritic spines, associate with FMRP.