World Mitochondrial Disease Week, 18-24 Sept, 2023 - Theme, Importance

The World Mitochondrial Disease Week is a global healthcare event observed for the third week of September every year, It is focussed on invoking the awareness of mitochondrial disease on a worldwide scale. This year 2023, the World Mitochondrial Disease Week is celebrated from the 18th to 24th of September.

World Mitochondrial Disease Week has been organised by the United Mitochondrial Disease Foundation (UMDF) for more than 25 years, which played a key role in the research and education of mitochondrial disease. It also collaborated with hospitals, top clinicians, and research centres dedicated to finding answers to mitochondrial disease.

About Mitochondrial Disease - The Caliginous Disease 

Mitochondrial diseases are the various conditions that disturb the work of mitochondria. Mitochondria is an organelle present in the cells which make energy. Mitochondria is the powerhouse of the cell. Disturbed mitochondrial function cannot be able to produce the necessary amount of energy for the body, affecting the functioning of the organs. 

From the patient's perspective, mitochondrial disease is still relatively obscure as it has proven difficult to establish the prevalence of mitochondrial disease, predominantly due to clinical and genetic heterogeneity.

Mitochondrial disease is caused by dysregulated energy production in the mitochondria, mitochondrial diseases mushroom various types of symptoms such as daytime hypertension (the extension of high blood pressure at night into day), bilateral sensorineural hearing loss (hearing loss due to damaged inner ear or the auditory nerve), thickening of the left side of the heart, risking heart failure, chances of mitochondrial diabetes apart from muscle weakness and exercise intolerance.

The rarity of specific kinds of mitochondrial disease depends on the genetic defect, which is expressed in one in 200 people leading to a mitochondrial disease and one in 5,000 individuals could develop a serious illness. While many mitochondrial diseases are inherited, others can be a spontaneous occurrence. 

World Mitochondrial Disease Week 2023 Theme

This year, 2023, the World Mitochondrial Disease Week theme is “Fatigue”, which emphasises the manifestation of fatigue general malaise, which is a common emanation seen in people suffering from Mitochondrial Disease. 

Fatigue, poor endurance, and exercise intolerance are some of the most common complaints in both adult and paediatric patients, which impact quality of life and level of disability but have not been extensively studied.

Fatigue could be two types - perceived and physiological fatigue. While perceived fatigue has been described as an overwhelming sense of tiredness, energy loss, or feeling of exhaustion, physiological fatigue, or exercise intolerance, refers to a muscle’s inability to generate and maintain power.

Breathing techniques, including therapeutic intermittent hypercapnia (increased carbon dioxide in the body) and hypoxia (low oxygen), can be a quick and effective way to relieve pain and fatigue. These techniques trigger conserved mechanisms which can make the patients more resilient to the stresses of modern life.

As a part of raising awareness for mitochondrial disease, every year, various monuments all around the world are lit up in green. This year's Light Up for Mito will take place in participating countries on the 23rd of September 2023, Saturday. 

Theological, Ethical, and Safety Concerns of Mitochondrial Replacement Therapy

Since there are no FDA-approved treatments for mitochondrial diseases, the scope of treatment for patients with mitochondrial diseases looks bleak. Except for avoiding triggering factors which amplify the symptoms of mitochondrial diseases, there are seldom any preventive measures.

Currently, Mitochondrial Replacement Therapy presents a promising picture. This therapy is a form of novel reproductive invitro fertilisation (IVF) working on the principle of replacing the mother’s abnormal mitochondrial DNA (mt-DNA) with the donor's healthy DNA so that a suitable chance of delivering a healthy offspring is provided.

Currently, mitochondrial replacement therapy can be done by either pronuclear transfer, maternal spindle transfer or polar body genome transfer. However, mitochondrial replacement therapy remains the subject of theological, ethical, and safety concerns.

• Theological concerns revolve primarily around the loss of human zygotes in the course of pronuclear transfer. 
• Ethical concerns are in question, which comes under the status of the donor in a ‘tri-parental’ construct and the implications thereof to would-be progeny. 
• Safety issues with the mitochondrial replacement therapy turn on the prospect of incompatibility between the donor mitochondria and the recipient nucleus.
• Additional safety concerns focus on the possibility of any carried-over mutant maternal DNA in derived progeny. 

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