Clinical and molecular heterogeneity in patients with mitochondrial encephalomyopathies due to complex I deficiency

1988 ◽  
Vol 11 (3) ◽  
pp. 333-336 ◽  
Author(s):  
T. Ichiki ◽  
M. Kobayashi ◽  
Y. Wada ◽  
M. Tanaka ◽  
T. Ozawa
Keyword(s):  
Complex I ◽  
Molecular Heterogeneity ◽  
Mitochondrial Encephalomyopathies ◽  
Complex I Deficiency

scholarly journals TAT-Conjugated NDUFS8 Can Be Transduced into Mitochondria in a Membrane-Potential-Independent Manner and Rescue Complex I Deficiency

2021 ◽  
Vol 22 (12) ◽  
pp. 6524
Author(s):  
Bo-Yu Lin ◽  
Gui-Teng Zheng ◽  
Kai-Wen Teng ◽  
Juan-Yu Chang ◽  
Chao-Chang Lee ◽  
...  
Keyword(s):  
Membrane Potential ◽  
Fusion Proteins ◽  
Complex I ◽  
Nadh Dehydrogenase ◽  
Leigh Syndrome ◽  
Protein Transduction ◽  
Independent Manner ◽  
Complex I Deficiency ◽  
Transactivator Of Transcription ◽  
Hiv 1

NADH dehydrogenase (ubiquinone) Fe-S protein 8 (NDUFS8) is a nuclear-encoded core subunit of human mitochondrial complex I. Defects in NDUFS8 are associated with Leigh syndrome and encephalomyopathy. Cell-penetrating peptide derived from the HIV-1 transactivator of transcription protein (TAT) has been successfully applied as a carrier to bring fusion proteins into cells without compromising the biological function of the cargoes. In this study, we developed a TAT-mediated protein transduction system to rescue complex I deficiency caused by NDUFS8 defects. Two fusion proteins (TAT-NDUFS8 and NDUFS8-TAT) were exogenously expressed and purified from Escherichia coli for transduction of human cells. In addition, similar constructs were generated and used in transfection studies for comparison. The results showed that both exogenous TAT-NDUFS8 and NDUFS8-TAT were delivered into mitochondria and correctly processed. Interestingly, the mitochondrial import of TAT-containing NDUFS8 was independent of mitochondrial membrane potential. Treatment with TAT-NDUFS8 not only significantly improved the assembly of complex I in an NDUFS8-deficient cell line, but also partially rescued complex I functions both in the in-gel activity assay and the oxygen consumption assay. Our current findings suggest the considerable potential of applying the TAT-mediated protein transduction system for treatment of complex I deficiency.

scholarly journals Investigating complex I deficiency in P urkinje cells and synapses in patients with mitochondrial disease

2015 ◽  
Vol 42 (5) ◽  
pp. 477-492 ◽  
Author(s):  
Alexia Chrysostomou ◽  
John P. Grady ◽  
Alex Laude ◽  
Robert W. Taylor ◽  
Doug M. Turnbull ◽  
...  
Keyword(s):  
Mitochondrial Disease ◽  
Complex I ◽  
Complex I Deficiency

scholarly journals Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

2016 ◽  
Vol 99 (1) ◽  
pp. 217-227 ◽  
Author(s):  
Charlotte L. Alston ◽  
Alison G. Compton ◽  
Luke E. Formosa ◽  
Valentina Strecker ◽  
Monika Oláhová ◽  
...  
Keyword(s):  
Complex I ◽  
Clinical Phenotype ◽  
Complex I Deficiency ◽  
Biallelic Mutations

scholarly journals Corrigendum: Hepatic S6K1 Partially Regulates Lifespan of Mice with Mitochondrial Complex I Deficiency

2017 ◽  
Vol 8 ◽  
Author(s):  
Takashi K. Ito ◽  
Chenhao Lu ◽  
Jacob Khan ◽  
Quy Nguyen ◽  
Heather Z. Huang ◽  
...  
Keyword(s):  
Complex I ◽  
Mitochondrial Complex I ◽  
Mitochondrial Complex ◽  
Complex I Deficiency

NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings

1996 ◽  
Vol 19 (5) ◽  
pp. 675-686 ◽  
Author(s):  
S. Pitkanen ◽  
A. Feigenbaum ◽  
R. Laframboise ◽  
B. H. Robinson
Keyword(s):  
Complex I ◽  
Coenzyme Q ◽  
Complex I Deficiency
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