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Alonso Rios

Leigh Syndrome

4. How can treatments help?

3. How it is affected

2. What organelles are affected?

1. General Information

INDEX

  • Leigh Syndrome is characterized as a severe neurological disorder that usually shows symptoms within infancy, but symptoms may occur later in life
    • "It is caused by over 110 genetic mutations in mitochondrial or nuclear DNA" (NCBI).
  • About 1 in 40,000 newborn infants are born with Leigh Syndrome globally.
  • Leigh Syndrome is diagnosed by performing Blood Tests, Brain Imaging, and Genetical Tests
  • Currently, there is no cure for Leigh Syndrome but it is treated by changing the diet and use of supplements.

Background information

Info

  • The Mitochondria is the cell that is most prominently affected by Leigh Syndrome due to mutation happening in this organelle's DNA
    • It performs Cellular Respiration which allows for ATP to be generated.
  • Some organelles that are affected by impaired Mitochondria are; the ER since it requires it for calcium signaling and Lysosomes since there will be more reactive oxygen species that would be needed to break down.

What Organelle is affected?

+ info

Although there isn't a cure for Leigh Syndrome nor a definitive treatment plan for all diagnoses, doctors are prescribing nutritional supplements that increase vitamin B1 and Biotin since they promote mitochondrial function. They also recommend a high-fat, low-carb diet since it may help in controlling metabolism. These treatments show immediate improvement of symptoms in infants and can lengthen their lifespan past the average of 2-3 years.

How can treatments help?

8.

7. https://medlineplus.gov/genetics/condition/leigh-syndrome/#causes

6. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10476366/#:~:text=Keywords:%20Leigh%20syndrome%2C%20Leigh%20disease,with%20a%20later%20disease%20onset.

5. https://www.dnaaccesslab.com/product/leigh-syndrome/

4. https://www.mayoclinic.org/diseases-conditions/hypoglycemia/symptoms-causes/syc-20373685#:~:text=Hypoglycemia%20is%20a%20condition%20in,often%20related%20to%20diabetes%20treatment.

3. https://www.frontiersin.org/journals/physiology/articles/10.3389/fphys.2021.693734/full

2. https://rarediseases.org/rare-diseases/leigh-syndrome/

1. https://medlineplus.gov/download/genetics/condition/leigh-syndrome.pdf

Sources

A Few Examples of Genes that are Mutated