The DOI matches its Crossref record; 113 of the 113 references it cites were found in a registry or an index.
Complex I deficiency: clinical features, biochemistry and molecular genetics
Abstract
Complex I deficiency is the most frequent mitochondrial disorder presenting in childhood, accounting for up to 30% of cases. As with many mitochondrial disorders, complex I deficiency is characterised by marked clinical and genetic heterogeneity, leading to considerable diagnostic challenges for the clinician, not least because of the involvement of two genomes. The most prevalent clinical presentations include Leigh syndrome, leukoencephalopathy and other early-onset neurodegenerative disorders; fatal infantile lactic acidosis; hypertrophic cardiomyopathy; and exercise intolerance. Causative genetic defects may involve the seven mitochondrial-encoded or 38 nuclear-encoded subunits of the enzyme, or any of an increasing number of assembly factors implicated in the correct biosynthesis of complex I within the inner mitochondrial membrane. In this review, we discuss recent advances in knowledge of the structure, function and assembly of complex I and how these advances, together with new high-throughput genetic screening techniques, have translated into improved genetic diagnosis for affected patients and their families. Approximately 25% of cases have mitochondrial DNA mutations, while a further ∼25% have mutations in a nuclear subunit or in one of nine known assembly factors. We also present a systematic review of all published cases of nuclear-encoded complex I deficiency, including 117 cases with nuclear subunit mutations and 55 with assembly factor mutations, and highlight clinical, radiological and biochemical clues that may expedite genetic diagnosis.
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Cites
Chronic Parkinsonism in Humans Due to a Product of Meperidine-Analog Synthesis
Langston, J. W., Ballard, P., Tetrud, J. W., & Irwin, I. (1983) · Science · doi:10.1126/science.6823561 · Cited by 4,914
Wu, Z., Puigserver, P., Andersson, U., Zhang, C., Adelmant, G., Mootha, V., Troy, A., Cinti, S., Lowell, B., Scarpulla, R. C., et al. (1999) · Cell · doi:10.1016/s0092-8674(00)80611-x · Cited by 4,139
Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy
Wallace, D. C., Singh, G., Lott, M. T., Hodge, J. A., Schurr, T. G., Lezza, A. M. S., Elsas, L. J., & Nikoskelainen, E. K. (1988) · Science · doi:10.1126/science.3201231 · Cited by 2,440
A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology
Pagliarini, D. J., Calvo, S. E., Chang, B., Sheth, S. A., Vafai, S. B., Ong, S.-E., Walford, G. A., Sugiana, C., Boneh, A., Chen, W. K., et al. (2008) · Cell · doi:10.1016/j.cell.2008.06.016 · Cited by 1,994
Supercomplexes in the respiratory chains of yeast and mammalian mitochondria
Schägger, H., & Pfeiffer, K. (2000) · The EMBO Journal · doi:10.1093/emboj/19.8.1777 · Cited by 1,356
Energy Converting NADH: Quinone Oxidoreductase (Complex I)
Brandt, U. (2006) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.75.103004.142539 · Cited by 814
SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY IN AN INFANT
Leigh, D. (1951) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp.14.3.216 · Cited by 786
Leigh syndrome: Clinical features and biochemical and DNA abnormalities
Rahman, S., Blok, R. B., Dahl, H. ‐. M., Danks, D. M., Kirby, D. M., Chow, C. W., Christodoulou, J., & Thorburn, D. R. (1996) · Annals of Neurology · doi:10.1002/ana.410390311 · Cited by 778
Self-citationStructure of the Hydrophilic Domain of Respiratory Complex I from Thermus thermophilus
Sazanov, L. A., & Hinchliffe, P. (2006) · Science · doi:10.1126/science.1123809 · Cited by 763
Schapira, A. H. V., Mann, V. M., Cooper, J. M., Dexter, D., Daniel, S. E., Jenner, P., Clark, J. B., & Marsden, C. D. (1990) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.1990.tb05809.x · Cited by 673
Cited by
Structure of mammalian respiratory complex I
Zhu, J., Vinothkumar, K. R., & Hirst, J. (2016) · Nature · doi:10.1038/nature19095 · Cited by 580
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
Zufferey, F., Sherr, E. H., Beckmann, N. D., Hanson, E., Maillard, A. M., Hippolyte, L., Macé, A., Ferrari, C., Kutalik, Z., Andrieux, J., et al. (2012) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2012-101203 · Cited by 326
Sources and implications of NADH/NAD+ redox imbalance in diabetes and its complications
Yan, L.-J., Wu, J., Jin, Z., & Zheng, H. (2016) · Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy · doi:10.2147/dmso.s106087 · Cited by 198
Subunit NDUFV3 is present in two distinct isoforms in mammalian complex I
Bridges, H. R., Mohammed, K., Harbour, M. E., & Hirst, J. (2017) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2016.12.001 · Cited by 38
Respiratory chain deficiency in aged spinal motor neurons
Rygiel, K. A., Grady, J. P., & Turnbull, D. M. (2014) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2014.02.027 · Cited by 41
Metadata
- Authors
- Fassone, E., & Rahman, S.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2012-09
- Volume
- 49
- Issue
- 9
- Pages
- 578-590
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2116248509
- Cited by
- 320
- References
- 113
- FWCI
- 5.23
- Type
- journal article
- Language
- en
- Open access
- closed
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