The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: Evidence from 12 cases

Archives of Neurology

Volumn 65, Issue 3, 2008, Pages 368-372

  Shanske, Sara ^a   Coku, Jorida ^a   Lu, Jiesheng ^a   Ganesh, Jaya ^b   Krishna, Sindu ^a   Tanji, Kurenai ^a   Bonilla, Eduardo ^a   Naini, Ali B ^a   Hirano, Michio ^a   DiMauro, Salvatore ^a  

^a NewYork Presbyterian Hospital   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; CONTROLLED STUDY; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; INFANT; LABORATORY DIAGNOSIS; LEIGH DISEASE; MALE; MELAS SYNDROME; MUTATIONAL ANALYSIS; NEWBORN; PHENOTYPE; PRIORITY JOURNAL;

ADULT; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; ELECTRON TRANSPORT COMPLEX IV; FAMILY HEALTH; FEMALE; HUMANS; INFANT; LEIGH DISEASE; MALE; MELAS SYNDROME; MIDDLE AGED; MITOCHONDRIAL PROTEINS; MUSCLE, SMOOTH, VASCULAR; MUTATION; SUCCINATE DEHYDROGENASE;

EID: 40849083528     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2007.67     Document Type: Article

References (16)

1. Santorelli FM, Tanji K, Kulikova R, et al. Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. Biochem Biophys Res Commun. 1997;238(2):326-328.
2. Pulkes T, Eunson L, Patterson V, et al. The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS [published correction appears in Ann Neurol. 2000;47(6):841]. Ann Neurol. 1999;46(6):916-919.
3. Chol M, Lebon S, Bénit P, et al. The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency. J Med Genet. 2003;40(3):188-191.
4. Hanna MG, Nelson IP, Morgan-Hughes JA, Wood NW. MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity. J Neurol Neurosurg Psychiatry. 1998;65(4):512-517.
5. Kirby DM, Boneh A, Chow CW, et al. Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease. Ann Neurol. 2003;54(4):473-478.
6. Pénisson-Besnier I, Reynier P, Asfar P, et al. Recurrent brain hematomas in MELAS associated with an ND5 gene mitochondrial mutation. Neurology. 2000;55(2):317-318.
7. Petruzzella V, Di Giacinto G, Scacco S, et al. Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit. Neurology. 2003;61(7):1017-1018.
8. Corona P, Antozzi C, Carrara F, et al. A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients. Ann Neurol. 2001;49(1):106-110.
9. Dickerson BC, Holtzman D, Grant PE, Tian D. Case 36-2005: a 61-year-old woman with seizure, disturbed gait, and altered mental status. N Engl J Med. 2005;353(21):2271-2280.
10. Tanji K, Bonilla E. Optical imaging techniques (histochemical, immunohistochemical, and in situ hybridization staining methods) to visualize mitochondria. Methods Cell Biol. 2001;65:311-332.
11. DiMauro S, Servidei S, Zeviani M, et al. Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol. 1987;22(4):498-506.
12. Shanske S, Pancrudo J, Kaufmann P, et al. Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis. Am J Med Genet A. 2004;130(2):134-137.
13. Malfatti E, Bugiani M, Invernizzi F, et al. Novel mutation of ND genes in complex I deficiency associated with mitochondrial encephalopathy. Brain. 2007;130(pt 7):1894-1904.
14. Naini AB, Lu J, Kaufmann P, et al. Novel mtDNA ND5 mutation in a patient with clinical features of MELAS and MERRF. Arch Neurol. 2005;62(3):473-476.
15. Liolitsa D, Rahman S, Benton S, Carr LJ, Hanna MG. Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations? Ann Neurol. 2003;53(1):128-132.
16. Crimi M, Galbiati S, Moroni I, et al. A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. Neurology. 2003;60(11):1857-1861.