Yasushi Okazaki

Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Hongo 2-1-1, Bunkyo-ku, Tokyo 113-8421, Japan


  • Mini Review   
    A typical phenotypes due to NDUFV1 mutations
    Author(s): Nurun Nahar Borna and Yasushi Okazaki*

    Mitochondria have a critical role in energy metabolism, generating and scavenging of free radicals, intracellular Ca2+ regulation, and cell mitophagy. Dysfunction of the mitochondrial oxidative phosphorylation complex is the most frequent inborn errors of metabolism. Mitochondrial diseases are highly diverse in etiology, age of the disease onset, involvement of multiple organ systems, and genetic causes. NDUFV1 is a core subunit of mitochondrial Complex I (CI), and mutations cause CI deficiency. Clinically, CI deficiency is associated with severe infantile lactic acidosis, cardiomyopathy, encephalomyopathy, leukoencephalopathy, and Leigh syndrome. The cellular biology and molecular mechanisms of mitochondrial diseases are still elusive due to the heterogeneous genetic background and lack of phenotype-genotype correlation. Neurological abnormalities are the second most frequent present.. Read More»
    DOI: 10.14534/j-pucr.2021267561

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