Increased prevalence of vitiligo, but no evidence of premature ageing, in the skin of patients with bp 3243 mutation in mitochondrial DNA in the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome (MELAS)

British Journal of Dermatology

Volumn 140, Issue 4, 1999, Pages 634-639

  Karvonen, Seija Liisa ^a   Haapasaari, K M ^a   Kallioinen, M ^a   Oikarinen, A ^a   Hassinen, I E ^b   Majamaa, K ^a  

^a OULU UNIVERSITY HOSPITAL   (Finland)

^b UNIVERSITY OF OULU   (Finland)

Author keywords

Bp 3243; Lactic acidosis; MELAS syndrome (mitochondrial encephalomyopathy; Mitochondrial genome; Premature ageing; Stroke like episodes); Vitiligo

Indexed keywords

COLLAGEN; MITOCHONDRIAL DNA;

ADULT; AGED; ARTICLE; CARDIOMYOPATHY; CLINICAL ARTICLE; COLLAGEN SYNTHESIS; CONTROLLED STUDY; DIABETES MELLITUS; DNA DETERMINATION; DOPPLER FLOWMETRY; ECHOGRAPHY; FEMALE; GENE MUTATION; HEARING LOSS; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MELAS SYNDROME; METABOLIC DISORDER; PREMATURE AGING; PREVALENCE; PRIORITY JOURNAL; VITILIGO;

ADULT; AGED; AGING, PREMATURE; CASE-CONTROL STUDIES; DNA, MITOCHONDRIAL; FEMALE; FINLAND; HUMANS; MALE; MELAS SYNDROME; MIDDLE AGED; MUTATION; PREVALENCE; VITILIGO;

EID: 0032927702     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.1999.02761.x     Document Type: Article

References (31)

1. 1 Johns DR. Mitochondrial DNA and disease. N Engl J Med 1995; 333: 638-44.
2. 2 Shoffner JM. Maternal inheritance and the evaluation of oxidative phosphorylation diseases. Lancet 1996; 348: 1283-8.
3. 3 Schon EA, Bonilla E, Di Mauro S. Mitochondrial DNA mutations and pathogenesis. J Bioenerg Biomembr 1997; 29: 131-49.
4. 4 Goto Y. Clinical features of MELAS and mitochondrial DNA mutations. Muscle Nerve 1995; 3 (Suppl.): 107-12.
5. Leu (UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990; 348: 651-3.
6. 6 Goto Y, Horai S, Matsuoka T et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation. Neurology 1992; 42: 545-50.
7. 7 Ciafaloni E, Ricci E, Shanske S et al. MELAS. Clinical features, biochemistry, and molecular genetics. Ann Neurol 1992; 31: 391-8.
8. 8 Majamaa K, Moilanen JS, Uimonen S et al. Epidemiology of A 3243G the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. Am J Hum Genet 1998; 63: 447-54.
9. 9 Berkovic SF, Shoubridge EA, Andermann F et al. Clinical spectrum of mitochondrial DNA mutation at base pair 8344. (Letter.) Lancet 1991; 338: 457.
10. 10 Larsson NG, Tulinius MH, Holme E, Oldfors A. Pathogenetic aspects of the A8344G mutation of the mitochondrial DNA associated with MERRF syndrome and multiple symmetric lipomas. Muscle Nerve 1995; 3 (Suppl.): 102-6.
11. 11 Klopstock T, Naumann M, Schalke B et al. Multiple symmetric lipomatosis: abnormalities in complex IV and multiple deletions in mitochondrial DNA. Neurology 1994; 44: 862-6.
12. 12 Campos Y, Martin MA, Navarro C et al. Single large-scale mitochondrial DNA deletion in a patient with mitochondrial myopathy associated with multiple symmetric lipomatosis. Neurology 1996; 47: 1012-14.
13. 13 Horiguchi Y, Fujii T, Imamura S. Purpuric cutaneous manifestations in mitochondrial encephalomyopathy. J Dermatol 1991; 18: 295-301.
14. 14 Fujii T, Okuno T, Masatoshi I et al. MELAS of infantile onset: mitochondrial angiopathy or cytopathy? J Neurol Sci 1991; 103: 37-41.
15. 15 McShane MA, Hammans SR, Sweeney M et al. Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA. Am J Hum Genet 1991; 48: 39-42.
16. 16 Kobayashi Y, Momoi MY, Tominaga K et al. A point mutation in the mitochondrial tRNA (LEU) (UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). Biochem Biophys Res Commun 1990; 173: 816-22.
17. 17 Kiistala U. Suction blister device for separation of viable epidermis from dermis. J Invest Dermatol 1968; 50: 129-37.
18. 18 Oikarinen A, Autio P, Kiistala U et al. A new method to measure type I and III collagen synthesis in human skin in vivo: demonstration of decreased collagen synthesis after topical glucocorticoid treatment. J Invest Dermatol 1992; 131: 660-3.
19. 19 Melkko J, Kauppila S, Niemi S et al. Immunoassay for the intact aminoterminal propeptide of human type I procollagen (PINP). Clin Chem 1996; 42: 947-54.
20. 20 Silverman RA, Lender J, Elmets CA. Effects of occlusive and semiocclusive dressings on the return of barrier function to transepidermal water loss in standardized human wounds. J Am Acad Dermatol 1989; 20: 755-60.
21. 21 Lévy JJ, von Rosen J, Gassmuller J et al. Validation of an in vivo wound healing model for the quantification of pharmacological effects on epidermal regeneration. Dermatology 1995; 190: 136-41.
22. 22 Haapasaari KM, Kallioinen M, Tasanen K et al. Increased collagen propeptides in the skin of a scleredema patient but no change in re-epithelialization rate. Acta Derm Venereol (Stockh) 1996; 76: 305-9.
23. 23 Howitch J, Brodthagen H, Schartz M et al. Prevalence of vitiligo. Arch Dermatol 1977; 113: 47-52.
24. 24 Norris DA, Horikawa T, Morelli JG. Melanocyte destruction and repopulation in vitiligo. Pigment Cell Res 1994; 7: 193-203.
25. 25 Ortonne JP, Bose SK. Vitiligo: Where do we stand? Pigment Cell Res 1993; 6: 61-72.
26. 26 Schallreuter KU, Büttner G, Pittelkow MR et al. Cytotoxicity of 6-biopterin to human melanocytes. Biochem Biophys Res Commun 1994; 204: 43-8.
27. 27 Maresca V, Roccela M, Roccela F et al. Increased sensitivity to peroxidative agents as a possible pathogenic factor of melanocyte damage in vitiligo. J Invest Dermatol 1997; 109: 310-13.
28. 28 Medrano EE, Nordlund JJ. Successful culture of adult human melanocytes obtained from normal and vitiligo donors. J Invest Dermatol 1990; 95: 441-5.
29. 29 Vale R. Intracellular transport using microtubule-based motors. Annu Rev Cell Biol 1987; 3: 347-78.
30. 30 Hirano M, Pavlakis SG. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): Current concepts. J Child Neurol 1994; 9: 4-13.
31. 31 Department US, of Health Education and Welfare. Skin conditions and related need for medical care among persons 1-74 years, United States 1971-74. Report no. 212. Vital Health Stat 1978: 11.