MITOCHONDRIAL GENETICS: ENERGY, INHERITANCE & DISEASE

"𝓜𝓲𝓽𝓸𝓬𝓱𝓸𝓷𝓭𝓻𝓲𝓪𝓵 𝓭𝓲𝓼𝓮𝓪𝓼𝓮𝓼 𝓪𝓻𝓮 𝓭𝓮𝓬𝓮𝓹𝓽𝓲𝓿𝓮𝓵𝔂 𝓬𝓸𝓶𝓹𝓵𝓮𝔁; 𝓻𝓸𝓸𝓽𝓮𝓭 𝓲𝓷 𝓫𝓸𝓽𝓱 𝓷𝓾𝓬𝓵𝓮𝓪𝓻 𝓪𝓷𝓭 𝓶𝓲𝓽𝓸𝓬𝓱𝓸𝓷𝓭𝓻𝓲𝓪𝓵 𝓓𝓝𝓐, 𝓪𝓷𝓭 𝓪𝓯𝓯𝓮𝓬𝓽𝓲𝓷𝓰 𝓽𝓱𝓮 𝓫𝓸𝓭𝔂 𝓯𝓻𝓸𝓶 𝓱𝓮𝓪𝓭 𝓽𝓸 𝓽𝓸𝓮." — Dr. Marni J. Falk

🧬 Mitochondria, the powerhouse of the cell, lie at the core of energy metabolism. But they are more than just ATP factories; they contain their own DNA (mtDNA), inherited solely from the mother, linking them to both cellular energy and genetic lineage.
           🔹 Unlike nuclear DNA, mtDNA encodes 37 vital genes, and its maternal inheritance creates a unique genetic transmission pattern. Mutations in mtDNA or nuclear genes affecting mitochondria can result in diverse, often devastating disorders. These include Leber's Hereditary Optic Neuropathy (LHON) and Mitochondrial Myopathy, both targeting high-energy organs such as the brain 🧠, heart 🫀, and muscles 🥓.
           🔹 The concept of heteroplasmy; the mix of mutant and normal mtDNA, makes clinical presentation unpredictable. This complexity challenges diagnostics but also fuels breakthroughs in therapies like Mitochondrial Replacement Therapy (MRT).
          🔹 As genomic tools advance, mitochondrial research expands beyond rare diseases into aging, neurodegeneration, diabetes, infertility, reproductive and cardiovascular health. Understanding mitochondrial genetics isn’t just about disease, it's about reshaping the future of medicine.

⚠️ In an Oystershell, mitochondrial genetics lies at the intersection of energy, Inheritance, and disease. Continued exploration in this space may redefine longevity, healthspan, and how we treat genetic disorders.

Abubakar Abubakar ✍🏻

•  Charlotte L. Alston et al. (2025). The American Journal of Human Genetics.

• Craven L et al. (2017). Nature, 465, 82–85.

• Gorman GS et al. (2016). Nature Reviews Disease Primers, 2, 16080.

• Stewart JB, Chinnery PF. (2015). Nature Reviews Genetics, 16(9), 530–542.

• Schon EA, DiMauro S, Hirano M. Nature Reviews Genetics, 13(12), 878–890.

• Yu-Wai-Man P, Griffiths PG, Chinnery PF. (2011). Progress in Retinal and Eye Research, 30(2), 81–114.

• Wallace DC. (2005). Cell, 120(4), 479–490.

• Thorburn DR. (2004). Journal of Inherited Metabolic Disease, 27(3), 349–362.

#Genetics #Mitochondria #RareDiseases #MolecularBiology #MitochondrialDNA #HealthcareInnovation #PrecisionMedicine #Biotech #MolecularMedicine #IVF #ArtificialReproductiveTechnology #Stem

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