individuals will be passed down to their future
generations without their offspring’s consent.
This is why the committee suggested women
undergoing the procedure be implanted with only
male embryos as the males born from them wouldn’t
be able to transmit the donated mitochondria further
on, preventing “potential adverse and uncertain
consequences of MRT from being passed on to future
generations.”
The report concluded that “a slow, cautious
approach to MRT is justified, with the requirement of
deliberate and continued attention to ethical, social,
and policy issues.”
Despite its recommendations, MRT is banned in the
US due to legislation prohibiting embryo manipulation
in a way that leads to “heritable genetic modification.”
Although similar bans are in place in many
other countries, the UK was the first to legalise
the procedure in 2015, within a strict regulatory
framework that allows women carrying a high risk of
passing down mitochondrial disease to undergo it at
Newcastle Fertility Centre, the only institution with a
licence to perform the procedure.
Before the centre can treat any patients eligible for
mitochondrial donation, it has to get permission from
the UK Human Fertilisation & Embryology Authority,
which grants it on a case-by-case basis.
“Before couples are accepted for mitochondrial
donation there is a rigorous process that includes
counselling to ensure they are well prepared for it,”
explained Curtis.
Living with mitochondrial disease
With nuclear genome transfer unable to treat
mitochondrial conditions, affected patients have to
rely on approaches that at best can manage their
symptoms, but some of them are still at risk of an early
death.
This was the fate of Lily, Curtis’ third daughter,
who was diagnosed with a mitochondrial condition at
seven weeks and suffered repeated seizures as well as
a cardiac arrest because of it. She eventually passed
away in April 2007, at the age of eight months.
“The experience was very isolating because there
was little information available about the condition or
support for families,” recalled Curtis. “It was like the
worst nightmare in every respect as no one was able
to give us any prognosis. You know that you are going
to lose your child, but you don’t know when. So, we
set the charity up to address these issues.”
On its web page, the Lily Foundation provides a
wealth of information on mitochondrial disease and
has a medical board to give patients quality advice. It
also helps families affected by the condition reach out
to others who have gone through similar experiences.
“We put families in contact with each other
because mitochondrial disease can feel very
isolating, and talking to someone who has
experienced the same problems is a great help for
GlobalHealthAndTravel.com
There are still unknowns about the health of babies born through
mitochondrial donation
those affected,” she said.
Since Curtis went through her ordeal, however,
things have definitely improved for people with
mitochondrial disease, at least in the UK.
“It’s definitely changed for the better,” she stressed.
“We now support over 750 families across the UK,
and we work in collaboration with the NHS [National
Health Service], which puts people diagnosed with
mitochondrial disease in contact with us.”
The foundation also puts a lot of money into
medical research in the hopes of finding better
diagnostics and, most importantly, a cure.
Despite the bleak prognosis of some patients,
many others can still have a good quality of life.
“Getting care for mitochondrial disease can
dramatically improve people’s well-being,” said Dr
Falk.
With enormous variability in terms of disease
course, some patients start experiencing symptoms
when they’re born, while others do so much later on,
even when they reach their 60s.
“There are people who only have heart problems
or only have vision problems, and there are people
who have multi-organ system dysfunction or severe
neurologic problems,” said Dr Falk. “It’s hard to
be specific, except that they’re all energy failure
problems, and they all do improve with specific
nutrition and exercise regimens.
“And there are a lot of novel therapies emerging
now that are based on preclinical studies on how to
improve energy production and function when the
genetic code of mitochondrial function is impaired. So,
there’s a lot of room for hope.” n
Despite
the bleak
prognosis of
some patients,
many others
can still have
a good quality
of life
MARCH 2020
57