Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population

Archives of Neurology

Volumn 63, Issue 1, 2006, Pages 107-111

  González Vioque, Emiliano ^a   Blázquez, Alberto ^b   Fernández Moreira, Daniel ^b   Bornstein, Belén ^a   Bautista, Juan ^d   Arpa, Javier ^c   Navarro, Carmen ^e   Campos, Yolanda ^b   Fernández Moreno, Miguel A ^a   Garesse, Rafael ^a   Arenas, Joaquin ^b   Martín, Miguel A ^b  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^b HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^c HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^d HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^e HOSPITAL DO MEIXOEIRO   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

DNA DIRECTED DNA POLYMERASE GAMMA; MITOCHONDRIAL DNA;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE STUDY; CONTROLLED STUDY; EXTERNAL OPHTHALMOPLEGIA; FEMALE; GENE MAPPING; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; LINKAGE ANALYSIS; MALE; MEDICAL DOCUMENTATION; MITOCHONDRIAL DNA DEPLETION; MUTATIONAL ANALYSIS; MYOPATHY; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SCREENING TEST; SOUTHERN BLOTTING;

ADENINE NUCLEOTIDE TRANSLOCATOR 1; ADULT; AGED; ANIMALS; BLOTTING, SOUTHWESTERN; DNA HELICASES; DNA PRIMASE; DNA, MITOCHONDRIAL; DNA-DIRECTED DNA POLYMERASE; FEMALE; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIA, MUSCLE; MUTATION; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; PHENOTYPE; SEQUENCE ALIGNMENT; SPAIN;

EID: 30344443067     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneur.63.1.107     Document Type: Article

References (16)

1. Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet. 2001;28:211-212.
2. Lamantea E, Tiranti V, Bordoni A, et al. Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann Neurol. 2002;52:211-219.
3. Agostino A, Valletta L, Chinnery PF, et al. Mutations of SLC25A4, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). Neurology. 2003;60:1354-1356.
4. Van Goethem G, Mercelis R, Lofgren A, et al. Patient homozygous for a recessive POLG mutation presents with features of MERRF. Neurology. 2003;61:1811-1813.
5. Naviaux RK, Nguyen KV. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann Neurol. 2004;55:706-712.
6. Luoma P, Melberg A, Rinne JO, et al. Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. Lancet. 2004;364:875-882.
7. Van Goethem G, Luoma P, Rantamaki M, et al. POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Neurology. 2004;63:1251-1257.
8. Martinez B, del Hoyo P, Martin MA, Arenas J, Perez-Castillo A, Santos A. Thyroid hormone regulates oxidative phosphorylation in the cerebral cortex and striatum of neonatal rats. J Neurochem. 2001;78:1054-1063.
9. Campos Y, Martin MA, Garcia-Silva T, et al. Clinical heterogeneity associated with mitochondrial DNA depletion in muscle. Neuromuscul Disord. 1998;8:568-573.
10. Filosto M, Mancuso M, Nishigaki Y, et al. Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. Arch Neurol. 2003;60:1279-1284.
11. Van Goethem G, Schwartz M, Lofgren A, Dermaut B, Van Broeckhoven C, Vissing J. Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. Eur J Hum Genet. 2003;11:547-549.
12. Di Fonzo A, Bordoni A, Crimi M, et al. POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. Hum Mutat. 2003;22:498-499.
13. Lamantea E, Zeviani M. Sequence analysis of familial PEO shows additional mutations associated with the 752C→T and 3527C→T changes in the POLG1 gene. Ann Neurol. 2004;56:454-455.
14. Rovio AT, Marchington DR, Donat S, et al. Mutations at the mitochondrial polymerase (PolG) locus associated with male infertility. Nat Genet. 2001;29:261-262.
15. National Center for Biotechnology Information Web site. Single nucleotide polymorphism. Available at: http://www.ncbi.nlm.nih.gov/. Accessed November 5, 2004.
16. Graziewicz MA, Longley MJ, Bienstock RJ, Zeviani M, Copeland WC. Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia. Nat Struct Mol Biol. 2004;11:770-776.