Charlie Gard Cause of Death: What Is Mitochondrial Depletion Syndrome?

Baby Charlie Gard has died, according to his parents.

Charlie was born in Britain on August 4, 2016, and appeared to be a healthy baby. However, within weeks, he was diagnosed with a rare genetic condition called mitochondrial depletion syndrome.

On Monday, July 24, Charlie’s parents, Connie Yates and Chris Gard, announced that they had made the courageous decision to end their legal battle over treatment for their son. Charlie was on life support at the Great Ormond Street Hospital, unable to eat or breathe without assistance. For several weeks, Yates and Gard had been fighting a court ruling that called for Charlie’s life support to be ended. The couple wanted to bring their son to the United States for treatment. Recently, however, Yates and Gard found out that it was “too late” for their baby to receive treatment; he had already suffered severe brain damage, according to BBC News.

What Is Mitochondrial Depletion Syndrome?

Mitochondrial depletion syndrome is caused by a gene mutation. The disease, which causes progressive muscle weakness and brain damage, is fatal in most cases. Infants born with mitochondrial depletion syndrome rarely make it to their toddler years and even fewer have lived to be teenagers.

“It is caused by mutations in genes that help maintain the DNA found inside the mitochondria (cells’ ‘powerhouses’) that turn nutrients into energy and have their own set of DNA. In Charlie’s case, the mutation is in a gene called RRM2B, which is involved in creating this mitochondrial DNA, according to the National Institutes of Health. The mutation leads to a reduction in the amount of mitochondrial DNA, and prevents the mitochondria from working properly.”

Mitochondrial depletion syndrome affects various body organs including the kidneys and the brain. It is also known to cause muscles to deteriorate.

According to the United Mitochondrial Disease Foundation, symptoms of mitochondrial depletion syndrome “can include seizures, strokes, severe developmental delays, inability to walk, talk, see, and digest food combined with a host of other complications. If three or more organ systems are involved, mitochondrial disease should be suspected.”

What Is Nucleoside Therapy?

Charlie’s parents wanted to bring him to the United States to undergo nucleoside therapy. According to Live Science, it is defined as “an unproven treatment aimed at the DNA materials that his cells can’t produce.” This form of treatment had never been used on a baby with Charlie’s form of mitochondrial depletion syndrome, but had been successful in treating patients with a TK2 mutation.

Because Charlie was already in the late stages of this illness, the chances of nucleoside therapy working were slim. Even still, it was a chance that Charlie’s parents were willing to take to save his life. However, in recent days, Yates and Gard were given the results of Charlie’s MRI which showed that he had suffered significant brain damage and the U.S.-based doctor willing to try the treatment informed them that it wouldn’t work.

Read More