GROUP WORK 2: MITOCHONDRIAL DISEASE

1.What is mitochondrial disease?

-Definition: Mitochondrial diseases are a

group of genetic disorders that are
characterized by defects in oxidative
phosphorylation and caused by mutations in
genes.1

-Cause:

+This disease inherited from the mother

+A cell has just one nucleus and many mitochondrial. If mutation affects
mitochondrial DNA, some might be healthy, others defective. Therefore, some
mitochondrial might be less affected than others.

-Symptom:

+Mitochondrial disease can affect any organ or tissue at different times through-
out life

+Muscle weakness because muscles use a significant amount of ATP

+Cognitive Defects, Brain Degeneration because neurons in the brain utilize an

enormous amount of ATP

2.Describe some ways in which these challenges can be overcome by gene

therapy

1
https://www.nature.com/articles/nrdp201680
Page 1|3
-Gene therapy:

+Gene therapy: the introduction of genes into an afflicted individual for therapeutic
purposes. The cells that receive the normal allele must be cells that multiply
throughout the patient’s life.2

+A retrovirus that has been rendered harmless is used as a vector in this procedure,
which exploits the ability of a retrovirus to insert a DNA transcript of its RNA
genome into the chromosomal DNA of its host cell3

-Mitochondrial donation: combine the nuclear DNA from an affected egg cell with
healthy mitochondrial from another woman. The embryo would then have nuclear
DNA from original mother and father and mitochondrial from egg cell donor

2
Human gene therapy p428 Campbell edition 10th
3
Figure 20.22 Gene therapy using a retroviral vector p429 Campbell edition 10th
Page 2|3
-The mitochondrially targeted zinc
finger-nuclease, or mtZFN,
recognises and then eliminates the
mutant mitochondrial DNA based on
the DNA sequence differences
between healthy and mutant
mitochondrial DNA.

-As cells generally maintain a stable

number of mitochondrial DNA
copies, the mutated copies that are
eliminated are replaced with healthy
copies, leading to a decrease in the
mitochondrial mutation burden that
results in improved mitochondrial
function.4

4
https://www.drugtargetreview.com/news/35677/mitochondrial-diseases-gene-therapy/
Page 3|3