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2015, Number 3

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Correo Científico Médico 2015; 19 (3)

Updating on the topic of mitochondrial diseases

Pérez HME, Boue AA, Boue AA, Martínez CM, Cruz LL
Full text How to cite this article

Language: Spanish
References: 38
Page: 483-496
PDF size: 394.47 Kb.


Key words:

mitochondrial diseases, neurodegenerative diseases, mitochondrial DNA.

ABSTRACT

Mitochondrial diseases are a group of heterogeneous multisystem diseases in which the clinical presentation; genetic, biochemical, and histopathological show mitochondrial dysfunction. The disorders may depend on the proper mitochondrial DNA, nuclear DNA disorders or changes in communication mitochondrial and nuclear genomes. Its diagnosis requires the prior recognition of the clinical presentation and relies primarily on muscle biopsy and molecular studies to look for mutations in mitochondrial DNA. Mitochondrial diseases are a challenge for physicians. Mitochondria have their own DNA and damage this occurs, mitochondrial diseases related to the genesis of Alzheimer's, Parkinson's and diabetes mellitus. An updated knowledge of these diseases allows better diagnosis and management of these patients that is why a literature review of the current status of the topic was performed.


REFERENCES

  1. Arredondo Falagán A, Venet Cadet G, Román Guerra O, Ramírez Delgado EY. Bases moleculares de las enfermedades mitocondriales. Medisan. 2011 [citado 16 ene 2014]; 16(5). Disponible en: http://bvs.sld.cu/revistas/san/vol_16_5_12/san16512.htm

  2. Cardellá Rosales L, Hernández Fernández R. Respiración celular. En: Bioquímica Médica. t 3. La Habana: ECIMED; 1999.p. 619-702.

  3. Calì T, Ottolini D, Brini M. Mitochondrial Ca(2+) and neurodegeneration. Cell Calcium. 2012 [citado 18 ene 2014]; 52(1):73-85. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3396847/

  4. Schiff M, Bénit P, Coulibaly A, Loublie S, El-Khoury R, Rustin P. Mitochondrial response to controlled nutrition in health and disease. Nutr Rev. 2011 [citado 16 dic 2013]; 69(2):65–75. Disponible en: http://search.ebscohost.com/login.aspx?direct=true&db=mdc&AN=21294740&lang=es&site=ehost-live

  5. Junqueira LC, Carneiro J. Histología Básica. 4ta ed. España: Masson; 1996.

  6. Vaquero Sosa E, Campos Castelló J, Furió Bacete V, Bustos Arcos R, García Peñas J. Alteraciones del pelo como signo de enfermedad mitocondrial. Act Pediatr Española. 2012 [citado 21 feb 2014]; 70(1): 8-10. Disponible en: http://search.ebscohost.com/login.aspx?direct=true&db=lth&AN=82330740&lang=es&site=ehost-live

  7. Rodríguez Violante M, Cervantes Arriaga A, Vargas Cañas S, Corona T. Papel de la función mitocondrial en las enfermedades neurodegenerativas. Arch Neurocien Mex. 2010 [citado 18 ene 2014]; 15(1): 39-46. Disponible en: http://search.ebscohost.com/login.aspx?direct=true&db=lth&AN=65089127&lang=es&site=ehost-live

  8. Yu H, Ozdemir SS, Koilkonda RD, Chou TH, Porciatti V, Chiodo V, et al. Mutant NADH dehydrogenase subunit 4 gene delivery to mitochondria by targeting sequence-modified adeno-associated virus induces visual loss and optic atrophy in mice. Mol Vis. 2012 [citado 15 mar 2014]; 18: 1668-83. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/?term=Mutant+NADH+dehydrogenase+subunit+4+gene+delivery+to+mitochondria+by+targeting+sequence-modified+adeno-associated+virus+induces+visual+loss+and+optic+atrophy+in+mice

  9. Martínez Abundis E, Sánchez Rodríguez MA. Participación de la mitocondria en el desarrollo de estrés oxidativo en la obesidad. Bioquím. 2005 [citado 23 ene 2014]; 30(3): 82-89. Disponible en: http://web.b.ebscohost.com/ehost/pdfviewer/pdfviewer?sid=c4d10231-7629-46f4-b8c0-c41274d6b3be%40sessionmgr110&vid=1&hid=105

  10. Callegari S, Gregory PA, Sykes MJ, Bellon J, Andrews S, McKinnon RA, et al. Olymorphisms in the mitochondrial ribosome recycling factor EF-G2mt/MEF2 compromise cell respiratory function and increase atorvastatin toxicity. PLoS Genet. 2012 [citado 16 dic 2013]; 8(6). Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/?term=Olymorphisms+in+the+mitochondrial+ribosome+recycling+factor+EF-G2mt%2FMEF2+compromise+cell+respiratory+function+and+increase+atorvastatin+toxicity

  11. Filosto M, Scarpelli M, Cotelli MS, Vielmi V, Todeschini A, Gregorelli V, et al. The role of mitochondria in neurodegenerative diseases. J Neurol. 2011 [citado 24 ene 2014]; 258 (10): 1763-74. Disponible en:http://web.a.ebscohost.com/ehost/pdfviewer/pdfviewer?sid=012e2396-63c6-4036-8844-101f5b2c3b0d%40sessionmgr4004&vid=1&hid=4112

  12. Raza H. Dual localization of glutathione S-transferase in the cytosol and mitochondria: implications in oxidative stress, toxicity and disease. FEBS J. 2011 [citado 1 mar 2014]; 278(22) Disponible en: http://search.ebscohost.com/login.aspx?direct=true&db=mdc&AN=21929724&lang=es&site=ehost-live

  13. Nelson WE. Genética Humana. En: Tratado de Pediatría. 5ed. La Habana: Ed Ciencias Médicas; 1998: 375-382.

  14. Ma YY, Wu TF, Liu YP, Wang Q, Li XY, Zhang Y, et al. Mitochondrial respiratory chain enzyme assay and DNA analysis in peripheral blood leukocytes for the etiological study of Chinese children with Leigh syndrome due to complex I deficiency. Mitochondrial DNA. 2013 [citado 1 mar 2014]; 24(1):67-73. Disponible en: http://informahealthcare.com/doi/abs/10.3109/19401736.2012.717932

  15. Nelson WE. Enfermedades metabólicas En: Tratado de Pediatría. 5ed. La Habana: Ed Ciencias Médicas; 1998: 481-497.

  16. Zarrouk A, Vejux A, Nury T, El Hajj HI, Haddad M, Cherkaoui Malki M, et al. Induction of mitochondrial changes associated with oxidative stress on very long chain fatty acids (C22:0, C24:0, or C26:0)-treated human neuronal cells (SK-NB-E). Oxid Med Cell Longev. 2012 [citado 24 ene 2014]; 5. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/?term=Induction+of+mitochondrial+changes+associated+with+oxidative+stress+on+very+long+chain+fatty+acids+%28C22%3A0%2C+C24%3A0%2C+or+C26%3A0%29-treated+human+neuronal+cells+%28SK-NB-E%29

  17. Harrison Gómez C, Harrison Ragle A, Macías Hernández A, Guerrero Sánchez V. Mutación de ADN mitocondrial A3243G y expresión fenotípica heterogénea. Rev Med Inst Mexico. 2009 [citado 27 feb 2014]; 47(2):219-225. Disponible en: http://search.ebscohost.com/login.aspx?direct=true&db=lth&AN=52448206&lang=es&site=ehost-live

  18. Li BY, Sun J, Wei H, Cheng YZ, Xue L, Cheng ZH, et al. Radon induced reduced apoptosis in human bronchial epithelial cells with knockdown of mitochondria DNA. J Toxicol Environ Health A. 2012 [citado 18 ene 2014]; 75(18): 1111-9. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/term=Radoninduced+reduced+apoptosis+in+human+bronchial+epithelial+cells+with+knockdown+of+mitochondria+DNA

  19. Chen JB, Yang YH, Lee WC, Liuo CW, Lin TK. Sequence-based polymorphisms in the mitochondrial D-loop and potential SNP predictors for chronic dialysis. PLoS One. 2012 [citado 18 ene 2014]; 7(7): 41125. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/?term=Sequencebased+polymorphisms+in+the+mitochondrial+Dloop+and+potential+SNP+predictors+for+chronic+dialysis

  20. Serviddio G, Davide Romano A, Cassano T, Bellanti F, Altomare E, Vendemiale G. Principles and Therapeutic Relevance for Targeting Mitochondria in Aging and Neurodegenerative Diseases. Curr Pharm Des. 2011 [citado 18 ene 2014]; 17: 2036-2055. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/?term=Principles+and+Therapeutic+Relevance+for+Targeting+Mitochondria+in+Aging+and+Neurodegenerative+Diseases

  21. Guevara Campos J, González Guevara L, Urbáez Cano J, Parada Y. Encefalopatía infantil asociada con la mutación A3243G MELAS. Invest Clín. 2007 [citado 24 mar 2014]; 48(2). Disponible en: http://www.scielo.org.ve/scielo.phpscript=sci_arttext&pid=S0535-51332007000200011&lang=pt

  22. Columbié Garbey YE, Santiesteban Freixas R, Hernández Silva Y, Hernández Echavarría O. Neuropatía óptica hereditaria de Leber. Rev Cubana Oftalmol. 2012 [citado 24 ene 2014]; 25 (1) Disponible en: http://scielo.sld.cu/scielo.php?pid=S0864-21762012000100015&script=sci_arttext

  23. Achilli A, Iommarini L, Olivieri A, Pala M, Hooshiar Kashani B, Reynier P. Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy. PLoS One. 2012 [citado 24 ene 2014]; 7(8): 42242. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3411744/

  24. González Olhovich I, Lozano Elizondo D. Alteraciones neurooftalmológicas en pacientes que presentan enfermedades mitocondriales. Arch Neurocien. 2005 [citado 24 mar 2014]; 10(2). Disponible en: http://www.scielo.org.mx/scielo.php?script=sci_arttext&pid=S0187-47052005000200004

  25. Murphy JL, Ratnaike TE, Shang E, Falkous G, Blakely EL, Alston CL, et al. Cytochrome c oxidase-intermediate fibres: importance in understanding the pathogenesis and treatment of mitochondrial myopathy. Neuromuscul Disord. 2012 [citado 7 ene 2014]; 22(8): 690-8. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3476534/

  26. Méndez Herrera CR. Síndrome de Kearns- Sayre. Reporte de caso y revisión. de la literatura. Rev Mex Neuroc. 2011 [citado 7 ene 2014]; 12(5): 262-265. Disponible en: http://web.a.ebscohost.com/ehost/pdfviewer/pdfviewer?sid=7c5fb65e-0650-4ee9-a587-bbdd2f18cc4c%40sessionmgr4001&vid=1&hid=4107

  27. Ramírez Miranda A, Navas Pérez A, Gurria Quintana L, Vargas Ortega J, Murillo Correa C, Zenteno JC. Detección de deleciones en DNA mitocondrial heteroplásmico por medio de PCR en el Síndrome de Kearns-Sayre. Arch Soc Esp Oftalmol. 2008 [citado 24 mar 2014]; 83(3). 155-9. Disponible en: http://www.oftalmo.com/seo/archivos/maquetas/9/0AC17772-4594-00C8-F3F8-000022D59829/articulo.pdf

  28. Liou CW, Chen JB, Tiao MM, Weng SW, Huang TL, Chuang JH, et al. Mitochondrial DNA coding and control region variants as genetic risk factors for type 2 diabetes. Diabetes. 2012 [citado 11 ene 2014]; 61(10): 2642-51. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3447893/

  29. Sampedro A, Barbón J, Álvarez JA, Andrés M, Baldó C. Diabetes de herencia materna y sordera. Arch Soc Esp Oftalmol. 2009 [citado 24 mar 2014]; 84(7). Disponible en: http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S0365-66912009000700007&lang=p

  30. Giacomello M, Hudec R, Lopreiato R. Huntington's disease, calcium, and mitochondria. Biofactors. 2011 [citado 24 ene 2014]; 37(3): 206-218. Disponible en: http://web.a.ebscohost.com/ehost/pdfviewer/pdfviewer?sid=67ccc0de-b7f7-4c25-b285-355ba4ed36e7%40sessionmgr4005&vid=1&hid=4107

  31. Morais V, De Stroope B. Mitochondria Dysfunction and Neurodegenerative Disorders: Cause or Consequence. JAD. 2010 [citado 31 ene 2014]; 20(2): 255-63. Disponible en: http://web.b.ebscohost.com/ehost/pdfviewer/pdfviewer?sid=72c3c2ca-1717-4549-96b8-8813b61f751c%40sessionmgr115&vid=1&hid=107

  32. Rodríguez Pupo JM, Díaz Rojas YV, Rojas Rodríguez Y, Rodríguez Batista Y, Núñez Arias E. Actualización en enfermedad de Huntington. CCM. 2013 [citado 25 mar 2014]; 17(4). Disponible en: http://www.revcocmed.sld.cu/index.php/cocmed/article/view/1483/441

  33. Area Gómez E, Del Carmen Lara Castillo M, Tambini MD, Guardia Laguarta C, de Groof AJ, Madra M, et al. Upregulated function of mitochondria-associated ER membranes in Alzheimer disease. EMBO J. 2012 [citado 1 feb 2014], 31(21): 4106-23. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3492725/

  34. Schon E, Area Gomez E. Is Alzheimer's disease a Disorder of Mitochondria-Associated Membranes? JAD. 2010 [citado 1 feb 2014]; 20 (2): 281-92. Disponible en: http://web.b.ebscohost.com/ehost/pdfviewer/pdfviewer?sid=d8c92761-481e-46cf-80b9-4400be0915dc%40sessionmgr111&vid=1&hid=107

  35. Cooper O, Seo H, Andrabi S, Guardia Laguarta C, Graziotto J, Sundberg M, et al. Pharmacological rescue of mitochondrial deficits in iPSC-derived neural cells from patients with familial Parkinson's disease. Sci Transl Med. 2012 [citado 26 dic 2013]; 4(141): 14. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/term=Pharmacological+rescue+of+mitochondrial+deficits+in+iPSCderived+neural+cells+from+patients+with+familial+Parkinson%27s+disease.

  36. Damas J, Carneiro J, Gonçalves J, Stewart JB, Samuels DC, Amorim A, et al. Mitochondrial DNA deletions are associated with non-B DNA conformations. Nucleic Acids Res. 2012 [citado 16 ene 2014]; 40(16): 7606-21. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3439893/

  37. Rodríguez Pupo JM, Díaz Rojas YV, Rojas Rodríguez Y, Rodríguez Batista Y, Ricardo Rodríguez Y, Aguilera Rodríguez R. Actualización en enfermedad de Parkinson idiopática. CCM. 2013 [citado 25 mar 2014]; 17(2). Disponible en: http://www.revcocmed.sld.cu/index.php/cocmed/article/view/1125/377

  38. Miguel Soca PE. Enfermedades mitocondriales. Rev Neurol. 2014 [citado 27 mar 2014]; 58 (6): 288. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/24610699




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