Stephen Hawking lived with ALS, a motor neuron disease, from the age of 21, as it gradually destroyed his body, leaving him unable to speak or move.Danny Baird wasn’t diagnosed with a motor neuron disease until she was much older.Her family is among the 10 percent of MND cases that are inherited. She watched her brothers and sisters die from the condition.
“That terrified me, because I’d seemed like, I knew what was ahead of me and so I’d seen and I was particularly close to my younger brother and I spent quite a lot of time with him when he had it, but never really thought that I’ll get it.”
The Baird have a mutation in their genetic code, the sod1 gene, which affects the making of proteins. Doctors, using genetic technologies called anti sense oligonucleotides or ASO, are trying to stop the mutant gene from producing faulty and toxic protein.
“DNA sits in the nucleus and the protein machinery sits out in the cytoplasm. Every protein that’s made has to be read from the DNA.And a little transport mRNA it’s called is taken out and transported to the protein making machinery.It’s like the blueprint of every single protein that’s made now the proteins toxic.It’s very difficult for us to get access and correct the DNA at the moment, so we try and target this little transported RNA.The antisense oligonucleotides that we use which is the therapy is able to bind the RNA.An enzyme comes along RNAs and destroys the RNA which prevents the protein being made.”
Sod1 is one of 13 genes which doctors believe can cause inherited motor neuron diseases.It’s believed to account for20 percent of such cases.Research is underway to learn more about the other genes, which may provide further clues about other forms of the disease.
I’m Faith Lapidus VOA news