MITOCHONDRIAL DISEASE (Syllabus: GS Paper 3 – Sci and Tech)

Context: Mitochondrial disease (Mito), a group of conditions impairing energy production in organs due to mitochondrial dysfunction, remains a significant health concern worldwide.

Mitochondrial Disease

• Genetic Origins: Mitochondrial disease can arise from faulty genes in either nuclear DNA (inherited from both parents) or mitochondrial DNA (inherited maternally).
• Inheritance Patterns: Mitochondrial DNA mutations are passed down exclusively from the mother, with variable disease expression even among mildly affected carriers.
• Causes: Primary mitochondrial diseases stem from genetic mutations, often manifesting early in life, while secondary forms result from other health conditions affecting mitochondrial function.
• Symptoms: Occurs in approximately 1 in 5,000 people, affecting organs requiring high energy like the heart, brain, and muscles.
• Treatment: While there's no cure, treatments focus on managing symptoms and slowing disease progression through therapies like physical therapy, dietary adjustments, supplements, and medications.

Mitochondrial Donation

• About: It Involves transferring nuclear DNA from a person with mitochondrial DNA mutations to an egg from a donor with healthy mitochondria.
• Genetic Outcome: Results in offspring inheriting nuclear DNA from intended parents and healthy mitochondrial DNA from the donor, reducing or eliminating the risk of mitochondrial disease.
• Technical Procedure of Mitochondrial Donation

oSpecialized Requirements: Requires skilled scientists, advanced equipment, and hormonal treatments to stimulate egg production.

oSurgical Process: Involves ultrasound-guided egg retrieval, pioneered in the United Kingdom with ongoing clinical trials to ensure safety.

• Maeve’s Law of Mitochondrial Donation: Approved in Australia, governing research and clinical trials to establish safety and efficacy before widespread clinical application.
• Regulatory Conditions: Specifies strict licensing for research and initial clinical trials to refine techniques and ensure safety.