I'm going to talk about Nonsense-mediated and Staufen 1-mediated mRNA decay,
which are related pathways of post transcriptional control in mammalian cells.
This presentation is based largely on work that has been done in my lab.
For many years, my lab has studied
an mRNA decay pathway in mammalian cells called nonsense-mediated mRNA decay,
which is abbreviated NMD.
Normally, mRNA translation terminates at one of three nonsense codons,
which are shown here in red.
These codons usually don't encode any amino acid,
and signal release of the nascent peptide and
dissociation of the translationally active ribosome from the mRNA template.
The work that I'm going to talk about today began many years ago.
Actually, in the early 1980s,
when we embarked on a road that soon led to two important findings.
One, diseases can be due to
frameshift or nonsense mutations that result in the premature termination of translation.
And two, the premature termination of translation when it is sufficiently premature,
can result in NMD.
Initially, we focused on patients with one of tho anemias: beta zero thalassemia,
which is a deficiency in the beta globin component of
hemoglobin and triosephosphate isomerase deficiency,
which is a deficiency in the glycolytic enzyme triosephosphate isomerase.