Gene mutation seen in rare brain diseases now linked to ALS
A large genome-wide association study has prompted scientists to link a gene called kinesin family member 5A (KIF5A) with amyotrophic lateral sclerosis (ALS). Mutations in KIF5A disrupt protein transport between the brain and the spine and had previously been implicated in two rare diseases that cause muscle weakening, spasticity and other symptoms similar to those seen in ALS. By analyzing over 125,000 samples, an international team of researchers led by the National Institutes of Health's National Institute on Aging discovered that mutated KIF5A interferes with protein transport in axons that connect nerve cells in the brain and spine, leading to the progression of symptoms in ALS. Their findings, which were published in the journal Neuron, could inspire ideas for gene therapy to treat ALS. (Release)
A gene-based test for bladder cancer
Johns Hopkins researchers have developed a simple urine test that they believe will enhance the early detection of bladder cancer. The screen, called UroSEEK, is designed to detect mutations in 11 genes or chromosomal abnormalities that are associated with bladder cancer. They recommend that that the test be used along with a currently used noninvasive technology called cytology in patients who have already been treated for bladder cancer or who are at high risk for the disease. They described the technology in the journal eLife. (Release)
Newly discovered enzyme could be targeted in parasitic diseases
Researchers from the U.S., Belgium and Spain have discovered an enzyme that’s key to the survival and spread of several parasites, including Plasmodium, which causes the mosquito-borne disease malaria. The researchers scanned the genomes of seven parasites from a family known as Apicomplexa, which includes Plasmodium. By editing out the gene that produces the enzyme GNA1, they discovered that the enzyme is essential to parasite growth. That could make it a good therapeutic target, not only for malaria but for multiple other parasitic diseases in both people and animals, they reported in the journal Scientific Reports. (Release)