What is mitochondrial DNA depletion syndrome?
Mitochondrial DNA depletion syndrome refers to a group of disorders that cause affected tissues to suffer from a significant drop in mitochondrial DNA.
The DNA is found in the mitochondria of cells – an organelle found in most cells in which respiration and energy production occur.
This means, as in Charlie’s case, that sufferers do not get energy to their muscles, kidneys and brain.
MDS is typically fatal in infancy and early childhood.
There is currently no cure but some treatments have shown a reduction in symptoms.
the treatment is a 'hail mary' at best.....a parent never gives up hope
What is nucleoside bypass therapy?
Nucleoside bypass therapy is a new treatment that is taken as an oral medication.
It could theoretically have repaired Charlie’s mitochondrial DNA and helped it synthesise again by giving him the naturally occurring compounds his body isn’t able to produce.
A US expert said 18 people have been treated with nucleoside bypass therapy.
But he added that none of them were in a condition as severe as Charlie’s.
How Charlie Gard's parents fought heartbreaking battle to keep their son alive