MITO DISEASE - SCIENCE

MITO DISEASE - SCIENCE

News: Scientists are currently preparing for a clinical trial to determine whether mitochondrial donation is safe and effective, following the passage of a law in Australia in 2022 that will allow for the practice.

 

What’s in the news?

Mitochondrial Donation

  • An IVF-based procedure that prevents the transmission of faulty mitochondrial DNA, allowing families to have healthy, genetically related children.
  • Process:

·         Hormone Injections: Stimulate egg production in both the donor and the affected individual.

·         Egg Retrieval: Collect eggs from both the donor and the affected individual using an ultrasound-guided procedure.

·         Nuclear DNA Transfer: Extract the nuclear DNA from the affected individual’s egg and insert it into the donor egg with healthy mitochondria.

·         Fertilization: Use sperm from the intending father to fertilize the modified donor egg​​.

 Legal and Ethical Considerations

  • Maeve's Law: The Mitochondrial Donation Law Reform Bill 2021, passed by the Australian Senate in 2022, allows mitochondrial donation for research and clinical trials under strict regulations.
  • Requirements:

o    Facilities must obtain special permits.

o    Initial licenses for pre-clinical and clinical trial research to ensure safety and effectiveness​​.

 

Mitochondrial Disease

  • Mitochondrial diseases are a group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell.
  • These diseases can affect multiple organs and systems, including the brain, heart, liver, muscles, kidneys, and endocrine system.
  • Affects 1 in every 5,000 people, making it a common inherited metabolic condition

 Causes

  • Mitochondrial diseases are primarily genetic, resulting from mutations in either nuclear DNA (nDNA) or mitochondrial DNA (mtDNA).
  • They can be inherited in several ways:
  • Autosomal Recessive/Dominant Inheritance: Mutations in nDNA inherited from both or one parent.
  • Mitochondrial Inheritance: Mutations in mtDNA passed down from the mother.
  • De Novo Mutations: New mutations that occur spontaneously without a family history​​

 Symptoms

Symptoms of mitochondrial diseases vary widely and can include:

  • Muscle weakness and exercise intolerance
  • Neurological issues such as seizures, migraines, and developmental delays
  • Cardiomyopathy and other heart issues
  • Liver and kidney dysfunction
  • Endocrine problems, including diabetes and growth delays
  • Gastrointestinal disturbances
  • Visual and hearing impairments​​.

 

Types of Mitochondrial Diseases

There are several types of mitochondrial diseases, each with unique characteristics. Some notable types include:

  • Leigh Syndrome: Severe neurological disorder
  • MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes)
  • MERRF (Myoclonic Epilepsy with Ragged Red Fibers)
  • Kearns-Sayre Syndrome
  • Barth Syndrome
  • Alpers Disease
  • Chronic Progressive External Ophthalmoplegia (CPEO)
  • Friedreich's Ataxia

 Source: https://www.business-standard.com/health/mitochondrial-donation-all-you-need-to-know-about-this-mito-disease-124070800771_1.html