Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses

Neurology

Volumn 50, Issue 1, 1998, Pages 99-106

  Carrozzo, R ^a,b,c,d   Hirano, M ^a   Fromenty, B ^b   Casali, C ^a,b   Santorelli, F M ^c   Bonilla, E ^d   Dimauro, S ^c   Schon, E A ^b   Miranda, A F ^b  

^a Departments of Neurology Medicine   (United States)

^b Department of Genetics and Development ^*  (United States)

^c Department of Pathology ^*  (United States)

^d SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; ENCEPHALOMYOPATHY; FEMALE; GENE DELETION; GENE REARRANGEMENT; GENETIC HETEROGENEITY; HUMAN; MALE; MITOCHONDRIAL MEMBRANE; MULTIGENE FAMILY; MUSCLE BIOPSY; OXIDATIVE PHOSPHORYLATION; PATHOGENESIS; PRIORITY JOURNAL; PROMOTER REGION; SKELETAL MUSCLE;

EID: 0031882208     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.50.1.99     Document Type: Article

References (26)

1. Wallace DC. Maternal genes: mitochondrial diseases. Birth Defects 1987;23:137-190.
2. Wallace DC. Mitochondrial DNA mutations and neuromuscular disease. Trends Genet 1989;5:9-13.
3. DiMauro S, Moraes CT. Mitochondrial encephalomyopathies. Arch Neurol 1993;50:1197-1208.
4. Zeviani M, Servidei S, Gellera C, et al. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 1989;339:309-311.
5. Suomalainen A, Majander A, Haltia M, et al. Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia. J Clin Invest 1992;90:61-66.
6. Hirano M, Silvestri G, Blake DM, et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology 1994;44:721-727.
7. Bohlega S, Tanji K, Santorelli FM, et al. Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy. Neurology 1996;46: 1329-1334.
8. Suomalainen A, Kaukonen J, Amati P, et al. An autosomal locus predisposing to deletions of mitochondrial DNA. Nat Genet 1995;9:146-151.
9. Kaukonen JA, Amati P, Suomalainen A, et al. An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p. Am J Hum Genet 1996;58:763-769.
10. Engel WK, Cunningham CG. Rapid examination of muscle tissue: an improved trichrome stain method for fresh-frozen biopsy sections. Neurology 1963;13:919-923.
11. Sciacco M, Bonilla E. Cytochemistry and immunocytochemistry of mitochondria in tissue sections. Methods Enzymol 1996; 264:509-521.
12. DiMauro S, Servidei S, Zeviani M, et al. Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol 1987;22:498-506.
13. Zeviani M, Moraes CT, DiMauro S, et al. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 1988; 38:1339-1346.
14. Anderson S, Bankier AT, Barrel BG, et al. Sequence and organization of the human mitochondrial genome. Nature 1981;290:457-465.
15. Feinberg AP, Vogelstein B. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 1983;132:6-13.
16. Moraes CT, Shanske S, Tritschler H-J, et al. mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet 1991;48: 492-501.
17. Ozawa T, Tanaka M, Sugiyama S, et al. Multiple mitochondrial DNA deletions exist in cardiomyocytes of patients with hypertrophie and dilated cardiomyopathy. Biochem Biophys Res Commun 1990;170:830-836.
18. Fromenty B, Manfredi G, Sadlock J, et al. Efficient and specific amplification of identified partial duplications of human mitochondrial DNA by long PCR. Biochim Biophys Acta 1996; 1308:222-230.
19. Olson W, Engel WK, Walsh GO, Einaugler R. Oculocraniosomatic neuromuscular disease with "ragged-red" fibers. Histochemical and ultrastructural changes in limb muscles of a group of patients with idiopathic progressive external ophthalmoplegia. Arch Neurol 1972;26:193-211.
20. Schon EA, Rizzuto R, Moraes CT, et al. A direct repeat is a hotspot for a large-scale deletion of human mitochondrial DNA. Science 1989;244:346-349.
21. Moraes CT, Andreetta F, Bonilla E, et al. Replicationcompetent human mitochondrial DNA lacking the heavystrand promoter region. Mol Cell Biol 1991;11:1631-1637.
22. Ciafaloni E, Shanske S, Apostolski S, et al. Multiple deletions of mitochondrial DNA. Neurology 1991;41(Suppl 1):207.
23. Blumenthal DT, Shanske S, Schochet SS, et al. Myoclonus epilepsy with ragged-red fibers (MERRF) and multiple mtDNA deletions. Neurology (in press).
24. Santorelli FM, Sciacco M, Tanji K, et al. Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: a study of 56 patients. Ann Neurology 1996;39:789-795.
25. Clayton, DA. Structure and function of the mitochondrial genome. J Inherit Metab Dis 1992;15:439-447.
26. Shoffner JM, Lott MT, Voljavec AS, et al. Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slipreplication model and metabolic therapy. Proc Natl Acad Sci USA 1989;86:7952-7956.