Learn about dietary interventions, supplementation therapies, lifestyle modifications, and potential pharmacological approaches designed to mitigate mitochondrial dysfunction and support mitochondrial health. Gain insights into the multidisciplinary approach required for effective prophylaxis, encompassing medical management, genetic counseling, and supportive care interventions tailored to the specific needs of patients with mitochondrial diseases.

1. GENERAL PRINCIPLES OF
PROPHYLAXIS OF
MITOCHONDRIAL PATHOLOGY
By Sunidhi Singh
IM 534

2. Introduction
• Mitochondrial pathology refers to disorders or dysfunctions
affecting the mitochondria, which are the energy-producing
organelles found in cells of the body.
• These disorders can manifest in various ways, including muscle
weakness, neurological problems, developmental delays, and
metabolic dysfunction.
• Prophylaxis is crucial in patients with mitochondrial pathology
due to the potential long-term impact on growth, development,
and overall health.

3. Genetic Basis of
Mitochondrial
Disorders
• Mitochondrial disorders can arise from mutations in
mitochondrial DNA (mtDNA), which is distinct
from nuclear DNA and is inherited exclusively from
the mother.
• Genetic counseling plays a crucial role in the
management of mitochondrial disorders by helping
individuals and families understand the inheritance
patterns, recurrence risks, and available reproductive
options

4. Prophylaxis: lifestyle
modifications
• Importance of Healthy Diet and Nutrition:
• A balanced and nutrient-rich diet is essential for
supporting mitochondrial health.
• Emphasize the importance of incorporating a variety
of fruits, vegetables, whole grains, lean proteins, and
healthy fats into the diet.
• Certain nutrients, such as vitamins B, C, and E, as
well as minerals like magnesium and zinc, play crucial
roles in mitochondrial function and should be
included in adequate amounts.

5. Lifestyle
Modifications
• Mild degree of aerobic activity may
lead to an improvement of aerobic
capacity.
• Regular physical activity helps
enhance mitochondrial density
• Sufficient sleep is vital for optimal
mitochondrial function and cellular
repair

6. Antioxidant
Supplementation:
Antioxidants are molecules that
neutralize Reactive Oxygen Species
and protect cells from oxidative
damage.
By enhancing antioxidant defense
mechanisms, supplementation with
antioxidants may help support
mitochondrial function.
Coenzyme Q10 (CoQ10), vitamin C
and glutathione can be given

7. Medication
Management:
• Certain drugs like statins,
Aminglycosides can exacerbate
mitochondrial pathology
• Usage of these drugs should be taken
into account
• If not necessary the drugs should be
discountinued

8. Optimizing Maternal Health During
Pregnancy:
Maternal health during pregnancy
can influence fetal development,
including mitochondrial function.
Pregnant individuals should receive
adequate prenatal care, including
proper nutrition, prenatal vitamins,
and avoidance of harmful
substances (like smoke, alcohol,
heavy metals) to promote optimal
mitochondrial health in the
developing fetus.
Extreme temperatures, dehydration,
infections, and untreated metabolic
disorders can also increase the risk
of mitochondrial dysfunction

9. Genetic Counselling:
• For individuals with mitochondrial disorders or carriers of
mitochondrial DNA mutations, genetic counseling offers
guidance on reproductive options to minimizing the risk of
passing on the conditions in the next generation.
• Prenatal testing techniques, like Chorionic Villus Sampling
performed during 10th to 13th week of gestationAmniocentesis,
performed during 15th to 20th week of gestation
• Mitochondrial DNA analysis of the fetus using PCR These tests
can identify known mitochondrial DNA mutations and can be
helpful in diagnosis and prevention.

10. Reproductive options for
individuals/carriers with
mitochondrial pathology
• There are a variety of options to consider for
couples who want to minimise the risk of
transferring mitochondrial diseases in their
offsprings:
• Pre-implantation genetic diagnosis (PGD) enables
the selection of embryos free from mitochondrial
mutations before implantation.
• Gamete donation from a healthy Individual
• Adoption