Episode 58 - Mitochondrial Diseases and the Nervous System

17 snips

Jul 7, 2023

Discover the world of mitochondrial diseases affecting the nervous system with a focus on various syndromes and disorders like MELAS, Kearns Sayre Syndrome, Leber Hereditary Optic Neuropathy, and MERRF. Explore the genetic mutations, symptoms, diagnostic tools, and treatment options for these rare conditions.

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INSIGHT

Common Themes in Mitochondrial Diseases

Mitochondrial diseases primarily affect organs with high metabolic demands, like the brain, muscles, heart, retina, and cochlea.
These diseases have a wide range of onsets and phenotypes, from infancy to adulthood, and mild to severe.

INSIGHT

Variability in Mitochondrial Disease Presentation

Mitochondrial disease presentation varies due to mitochondrial segregation, heteroplasmy, and the threshold effect.
These factors influence the distribution and proportion of mutated mitochondrial DNA within cells and tissues.

ADVICE

Seeking Expert Opinion

Seek expert opinions from quaternary care centers for suspected or confirmed mitochondrial disorders.
These centers offer specialized treatments and access to clinical trials for rare diseases.

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A review of the selected mitochondrial diseases that affect the nervous system, with Drs. Aaron Bower and Jeremy Moeller.

Note: This podcast is intended solely as an educational tool for learners, especially neurology residents. The contents should not be interpreted as medical advice.

References

1. Davis RL, Liang C, Sue CM. Mitochondrial diseases. Handb Clin Neurol 2018;147:125-141.

2. Ng YS, Bindoff LA, Gorman GS, et al. Mitochondrial disease in adults: recent advances and future promise. Lancet Neurol 2021;20:573-584.

3. Orsucci D, Caldarazzo Ienco E, Rossi A, Siciliano G, Mancuso M. Mitochondrial Syndromes Revisited. J Clin Med 2021;10.

4. Buajitti E, Rosella LC, Zabzuni E, Young LT, Andreazza AC. Prevalence and health care costs of mitochondrial disease in Ontario, Canada: A population-based cohort study. PLoS One 2022;17:e0265744.

5. Tetsuka S, Ogawa T, Hashimoto R, Kato H. Clinical features, pathogenesis, and management of stroke-like episodes due to MELAS. Metab Brain Dis 2021;36:2181-2193.

7. Davila-Siliezar P, Carter M, Milea D, Lee AG. Leber hereditary optic neuropathy: new and emerging therapies. Curr Opin Ophthalmol 2022;33:574-578.

9. Velez-Bartolomei F, Lee C, Enns G. MERRF. In: Adam MP, Everman DB, Mirzaa GM, et al., eds. GeneReviews(®). Seattle WA: © 1993-2023, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle, 1993.

11. Hirano M, Carelli V, De Giorgio R, et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network. J Inherit Metab Dis 2021;44:376-387.

12. Rahman S, Copeland WC. POLG-related disorders and their neurological manifestations. Nat Rev Neurol 2019;15:40-52.