mitochondrial disease

• What is the main focus of Lecture 14?

  Mitochondrial function, dysfunction, and disease
• What should students be able to identify by the end of the lecture?

  Additional functions of mitochondria
• What are the key details about mtDNA that students should know?

  Structure, abundance, genome, inheritance, genetic code
• What are the causes of mitochondrial diseases?

  mtDNA mutation, nDNA mutation, toxin exposure

  
• What do mitochondrial diseases result in?

  Dysfunction of the mitochondria
• What types of tissue defects are associated with mitochondrial diseases?

  Muscle or nerve tissue defects

  
• How many different myopathies are associated with mitochondrial dysfunction?

  Approximately 35 different myopathies
• When was the first pediatric case of mitochondrial disease reported?

  In 1980
• What is the significance of maternal inheritance in mitochondrial diseases?

  Mitochondrial DNA is mostly inherited from the mother

  
• How does the ratio of wild type to mutant mtDNA affect disease severity?

  It significantly reflects disease severity

  
• What is Kearns-Sayre Syndrome also known as?

  Ragged Red Fibre Myopathy
• What causes Kearns-Sayre Syndrome?

  Large deletion in mtDNA
• What are common symptoms of Kearns-Sayre Syndrome?

  Ophthalmoplegia, retinal degeneration, weakness
• What is Leber’s Hereditary Optic Neuropathy caused by?

  Degeneration of nerve cells in the retina
• How many point mutations in mtDNA cause Leber’s Hereditary Optic Neuropathy?

  1. 4 point mutations
• What is Friedreich’s ataxia?

  Progressive damage to the nervous system
• What type of inheritance does Friedreich’s ataxia follow?

  Autosomal recessive inheritance
• What causes Wilson’s Disease?

  Mutation in ATPase gene that transports copper
• What are common symptoms of Wilson’s Disease?

  Liver problems, psychiatric issues, tiredness
• What are some treatments for mitochondrial diseases?

  Vitamins, lifestyle management, dietary changes
• What is mitochondrial replacement therapy?

  Transfer of nuclear DNA into a donor egg

  
• When was the first patient license for mitochondrial replacement therapy granted?

  In 2018
• What is the purpose of mitochondrial replacement therapy?

  To prevent maternal transfer of mtDNA

  
• What year did the first babies born from mitochondrial replacement therapy occur in the UK?

  In 2023
• What are the symptoms of Friedreich’s ataxia?

  • Muscle weakness
  • Loss of coordination
  • Vision impairment
  • Hearing loss
  • Slurred speech
  • Curvature of the spine
  • Deformity of the feet
  • Diabetes
  • Heart disorders
• What are the symptoms of Wilson’s Disease?

  • Liver problems
  • Tiredness
  • Bleeding
  • Portal hypertension
  • Splenomegaly
  • Ascites
  • Psychiatric issues (changes in behavior, depression, anxiety)
• What are the potential treatments for mitochondrial diseases?

  • Vitamins (B1, B12, C, E)
  • Lipoic acid
  • Coenzyme Q-10
  • Dietary management
  • Lifestyle changes
  • Drugs to block lactic acid buildup