The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia
Open accessAbstract
Friedreich ataxia (FRDA), the most common of the inherited ataxias, is an autosomal recessive degenerative disorder, characterized clinically by onset before the age of 25 of progressive gait and limb ataxia, absence of deep tendon reflexes, extensor plantar responses, and loss of position and vibration sense in the lower limbs. FRDA is caused by a GAA triplet expansion in the first intron of the FRDA gene on chromosome 9q13 in 97% of patients. The FRDA gene encodes a widely expressed 210-aa protein, frataxin, which is located in mitochondria and is severely reduced in FRDA patients. Frataxin function is still unknown but the knockout of the yeast frataxin homologue gene ( YFH1 ) showed a severe defect of mitochondrial respiration and loss of mtDNA associated with elevated intramitochondrial iron. Here we report in vivo evidence of impaired mitochondrial respiration in skeletal muscle of FRDA patients. Using phosphorus magnetic resonance spectroscopy we demonstrated a maximum rate of muscle mitochondrial ATP production ( V max ) below the normal range in all 12 FRDA patients and a strong negative correlation between mitochondrial V max and the number of GAA repeats in the smaller allele. Our results show that FRDA is a nuclear-encoded mitochondrial disorder affecting oxidative phosphorylation and give a rationale for treatments aimed to improve mitochondrial function in this condition.
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Cites
Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
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RESPIRATORY ENZYMES IN OXIDATIVE PHOSPHORYLATION
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia
Bradley, J. L. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.2.275 · Cited by 339
Self-citationCrystal Structure of Human Frataxin
Dhe-Paganon, S., Shigeta, R., Chi, Y.-I., Ristow, M., & Shoelson, S. E. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.c000407200 · Cited by 226
Iron use for haeme synthesis is under control of the yeast frataxin homologue (Yfh1)
Lesuisse, E. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg096 · Cited by 226
Frataxin interacts functionally with mitochondrial electron transport chain proteins
González-Cabo, P., Vázquez-Manrique, R. P., García-Gimeno, M. A., Sanz, P., & Palau, F. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi214 · Cited by 140
Thierbach, R., Schulz, T. J., Isken, F., Voigt, A., Mietzner, B., Drewes, G., von Kleist-Retzow, J.-C., Wiesner, R. J., Magnuson, M. A., Puccio, H., et al. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi410 · Cited by 127
Friedreich Ataxia: From GAA Triplet–Repeat Expansion to Frataxin Deficiency
Patel, P. I., & Isaya, G. (2001) · The American Journal of Human Genetics · doi:10.1086/321283 · Cited by 126
Does oxidative stress contribute to the pathology of Friedreich's ataxia? A radical question
Armstrong, J. S., Khdour, O., & Hecht, S. M. (2010) · The FASEB Journal · doi:10.1096/fj.09-143222 · Cited by 107
Anderson, P. R., Kirby, K., Orr, W. C., Hilliker, A. J., & Phillips, J. P. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0709691105 · Cited by 105
Reduction in frataxin causes progressive accumulation of mitochondrial damage
Karthikeyan, G. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg349 · Cited by 102
Frataxin expression rescues mitochondrial dysfunctions in FRDA cells
Tan, G. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.19.2099 · Cited by 82
Frataxin: its role in iron metabolism and the pathogenesis of Friedreich's ataxia
Becker, E., & Richardson, D. R. (2001) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/s1357-2725(00)00067-4 · Cited by 71
METTL17 is an Fe-S cluster checkpoint for mitochondrial translation
Ast, T., Itoh, Y., Sadre, S., McCoy, J. G., Namkoong, G., Wengrod, J. C., Chicherin, I., Joshi, P. R., Kamenski, P., Suess, D. L. M., et al. (2024) · Molecular Cell · doi:10.1016/j.molcel.2023.12.016 · Cited by 58
Molecular insights into Friedreich's ataxia and antioxidant-based therapies
Rötig, A., Sidi, D., Munnich, A., & Rustin, P. (2002) · Trends in Molecular Medicine · doi:10.1016/s1471-4914(02)02330-4 · Cited by 46
Frataxin and frataxin deficiency in Friedreich's ataxia
Wilson, R. B. (2003) · Journal of the Neurological Sciences · doi:10.1016/s0022-510x(02)00432-x · Cited by 32
Miranda, C. J., Santos, M. M., Ohshima, K., Tessaro, M., Sequeiros, J., & Pandolfo, M. (2004) · FEBS Letters · doi:10.1016/j.febslet.2004.07.022 · Cited by 30
Metadata
- Authors
- Lodi, R., Cooper, J. M., Bradley, J. L., Manners, D., Styles, P., Taylor, D. J., & Schapira, A. H. V.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 1999-09-28
- Volume
- 96
- Issue
- 20
- Pages
- 11492-11495
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2098129078
- Cited by
- 351
- References
- 4
- FWCI
- 8.82
- Type
- journal article
- Language
- en
- Open access
- green
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