Tag: mutation

  • Z-Mutations and Liver Disease

    Z-Mutations and Liver Disease

    Alpha-1 antitrypsin deficiency (AATD) is an important and under-recognized genetic cause of liver disease. The most common mutation associated with liver disease results from a single change within the DNA sequence known as the Z mutation – this mutation leads to abnormal processing and significant accumulation of the AAT protein within liver cells, which is…

  • This Gene Mutation Seems to Make Mice Smarter

    This Gene Mutation Seems to Make Mice Smarter

    Mice with a genetic mutation in the gene called KCND2 showed improved cognitive flexibility. They were able to adapt faster to changing situations than mice without the mutation. The discovery was made by researchers at the National Institute of Child Health and Human Development (NICHD). The findings were published in the journal Nature Communications. The…