Roll Number: 417

MEDICAL BIOLOGY 1 2016-2017

FACILITATED GROUP DISCUSSION
Topic Report

Discussion Topic: Should triparental embryos be used to treat families

affected by mitochondrial
disease?

Facilitator: Jamie McQueen

Student Group: 2G

Word count 960

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Introduction

The human genome consists of a large nuclear genome with over 26,000 genes and a relatively small
mitochondrial genome, coding only for 37 genes (Strachan and Read, 2004). Nevertheless, the mitochondrial
genome is much readily mutative than nuclear genome, resulting in various genetic diseases that affect cell
metabolism (Callaway, 2014). In most cases, children, that inherit diseased mitochondria from the maternal
egg, develop a debilitating and lethal disease. The Recent scientific research found a way to treat these
diseases before the baby is even born by removing nucleus with the genetic material from the egg of a
woman with inheritable mitochondrial disease and transferring it into a healthy egg with a removed nucleus
that belongs to a donor. Even though this technique could help many families to have a child, the procedure
has gained notoriety because the child is left with three genetic parents.

Review

It is no surprise that this controversial topic had divided opinions into two camps: for and against this method
of treatment. One of the main benefits of this mitochondrial gene replacement therapy would be helping
women, which carry the mitochondrial diseases, to have healthy and genetically-related children (Callaway,
2014). Even though the contribution of mitochondrial DNA is small, the impact on health caused by faulty
mitochondria in an embryo is critical (Dimond, 2015). Therefore, preventing the transmission of
mitochondrial disease by gene replacement therapy could improve the life of many children. The supporters
say that this procedure could help many children to avoid health disorders that are related to the
mitochondrial functions such as energy generation, steroid synthesis, reproduction and cell death (Lovell-
Badge, 2014).

On the other hand, the safety and effectiveness of this technique raise a lot of questions, considering that
triparental fertilization is still at the cutting edge and lacks proper research. The first experiments of human
fertilization via alteration of mitochondrial genetic inheritance was carried out by fertility specialist Jacques
Cohen in mid-1990s. Seventeen babies were born as a result of the procedure, nevertheless, the observation
of the children further development did not proceed, so the consequences to the health of triparental babies
remain unclear (Callaway, 2014). Even though recent experiments of pronuclear transfer in mice and
monkeys have been successful, researchers experimenting with macaques at Oregon Health and Science
University notes that human oocytes are much more sensitive than macaque zygotes (Darnovsky, 2014).
Moreover, opponents often consider the ethical aspect of the procedure, saying that there is a thin line
between the treatment of genetic diseases and modification of genetic traits of the embryo in order to achieve
desirable traits. Marcy Darnovsky suggests that the human engineering should be applied very thoughtfully
to treat medical conditions but should not change genetic traits of future children, as this would lead to
eugenics (Darnovsky, 2014).

Discussion

Both sides can agree, that the biggest advantage of mitochondrial gene treatment is giving families hope to
have a healthy and most importantly, genetically related child. The UK Department of Health endorses the
mitochondrial donation saying that scientific evidence proves that the personal traits are entirely determined
by nuclear DNA, thus donor DNA has no effect on these characteristics (Dimond, 2015). Neurologists
Douglas Turnbull says that present-day treatment of mitochondrial diseases is restricted by only managing
the symptoms (Callaway, 2014). Thus it is unfair to not take advantage of the technique in order to prevent
the transmission of devastating mitochondrial diseases. Besides, practising mitochondrial replacement
therapy could open doors for further research, allowing scientists to continue studying the importance of
mitochondrial genome and even create a new branch of medicine that could potentially apply a similar type
of treatment to cure other diseases.

Nevertheless, the mitochondrial replacement is a complex subject, involving a variety of safety and ethical
issues. The mitochondrial DNA might not have any effect on personal characteristics of the future child, but
the true relationship between mitochondrial and nuclear DNA are still yet to be discovered. The mitochondria
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are responsible for a lot of metabolic reactions and processes in a cell. Therefore, there is a chance that it
could display epigenetic alterations in nuclear DNA putting the embryo at risk (Dimond, 2015). Another
worrying fact is that not all experiments of triparental fertilization on animals appear to be successful. Some
studies suggest that genetically altered mice developed health problems, such as hypertension, faulty
cognition and obesity (Callaway, 2014). This means, that studies on animals cannot be fully trusted and more
research needs to be carried out on humans. Moreover, the effects of such embryo modifications to the future
generations are also unclear and hardly predictable, meaning that the first babies born after treated with
mitochondrial replacement will have to be monitored all their lives. A conservative MP Fiona Bruce
suggested a new approach at triparental embryos saying that nuclear transfer into a donor egg involves
destroying at least two human embryos in the process to form one, which is highly unethical (Dimond,
2015). The fact remains that by replacing faulty mitochondria with the one from the donor we modify not yet
existing embryo instead of curing actual ill people and this is considered to be eugenics instead of medicine
(Newman, 2013).

Conclusion

It is clear, that the supporters of triparental fertilization highlight how this procedure would benefit the
families, while opponents express more ethical approach against the procedure. Thanks to triparental
fertilization, parents are provided with a choice to have a healthy child that would still inherit both of their
genetic material. However, this subject reflects many issues that cannot be ignored deciding whether it is
right or not to apply this type of gene therapy on not yet existing humans. The genetic contribution of
mitochondrial DNA might be more important than we thought, so it is dangerous to irreversibly modify the
genetic inheritance without knowing the exact consequences. Moreover, mitochondrial replacement could
pave the way for many new scientific discoveries, yet it is a slippery slope that could also easily lead to
designer babies.

References:

Callaway, E. (2014). The Power of Three. 509

Darnovsky, M. (2014). Genetically Modified Babies. The New York Times. [Online]. Available at:
http://nyti.ms/1fv84Bh [Accessed 10 February 2017]
Dimond, R. (2015). Social and ethical issues in mitochondrial donation. British Medical Bulletin, 115, 173-
182.
Lovell-Badge, R. (2014). Mitochondrial replacement: no need for a rethink. New scientist. [Online].
Available at: https://www.newscientist.com/article/dn26400-mitochondrial-replacement-no-need-for-a-
rethink/ [Accessed 10 February 2017].
Newman, S. (2013). The British Embryo Authority and the Chamber of Eugenics. The Huffington Post.
[Online]. Available at: http://www.huffingtonpost.com/stuart-a-newman/mitochondrial-replacement-
ethics_b_2837818.html [Accessed 11 February 2017].
Strachan, T. and Read, A. (2004). Human molecular genetics 3. 1st ed. New York: Garland Science.