Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)

被引：117

作者：

Agostino, A

Valletta, L

Chinnery, PF

Ferrari, G

Carrara, F

Taylor, RW

Schaefer, AM

Turnbull, DM

Tiranti, V

Zeviani, M

机构：

[1] Natl Neurol Inst Carlo Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Childrens Mi, I-20126 Milan, Italy

[2] Univ Newcastle Upon Tyne, Dept Neurol, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

来源：

NEUROLOGY | 2003年 / 60卷 / 08期

关键词：

D O I：

10.1212/01.WNL.0000056088.09408.3C

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

To verify the impact of mutations in ANT1, Twinkle, and POLG1 genes in sporadic progressive external ophthalmoplegia associated with multiple mitochondrial DNA (mtDNA) deletions, DNA samples from 15 Italian and 12 British patients were screened. Mutations in ANT1 were found in one patient, in Twinkle in two patients, and in POLG1 in seven patients. Irrespective of the inheritance mode, screening of these genes should be performed in all patients with progressive external ophthalmoplegia with multiple mtDNA deletions.

引用

页码：1354 / 1356

页数：3

共 10 条

[1] Hart P.E., 2002, Mitochondrial Disorders in Neurology, V2, P35
[2] MITOCHONDRIAL MYOPATHIES - CLINICAL AND BIOCHEMICAL FEATURES OF 30 PATIENTS WITH MAJOR DELETIONS OF MUSCLE MITOCHONDRIAL-DNA
HOLT, IJ
HARDING, AE
COOPER, JM
SCHAPIRA, AHV
TOSCANO, A
CLARK, JB
MORGANHUGHES, JA
[J]. ANNALS OF NEUROLOGY, 1989, 26 (06) : 699 - 708
[3] Role of adenine nucleotide translocator 1 in mtDNA maintenance
Kaukonen, J
Juselius, JK
Tiranti, V
Kyttälä, A
Zeviani, M
Comi, GP
Keränen, S
Peltonen, L
Suomalainen, A
[J]. SCIENCE, 2000, 289 (5480) : 782 - 785
[4] Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia
Lamantea, E
Tiranti, V
Bordoni, A
Toscano, A
Bono, F
Servidei, S
Papadimitriou, A
Spelbrink, H
Silvestri, L
Casari, G
Comi, GP
Zeviani, M
[J]. ANNALS OF NEUROLOGY, 2002, 52 (02) : 211 - 219
[5] GENOTYPE TO PHENOTYPE CORRELATIONS IN MITOCHONDRIAL ENCEPHALOMYOPATHIES ASSOCIATED WITH THE A3243G MUTATION OF MITOCHONDRIAL-DNA
MARIOTTI, C
SAVARESE, N
SUOMALAINEN, A
RIMOLDI, M
COMI, G
PRELLE, A
ANTOZZI, C
SERVIDEI, S
JARRE, L
DIDONATO, S
ZEVIANI, M
[J]. JOURNAL OF NEUROLOGY, 1995, 242 (05) : 304 - 312
[6] MITOCHONDRIAL-DNA DELETIONS IN PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA AND KEARNS-SAYRE SYNDROME
MORAES, CT
DIMAURO, S
ZEVIANI, M
LOMBES, A
SHANSKE, S
MIRANDA, AF
NAKASE, H
BONILLA, E
WERNECK, LC
SERVIDEI, S
NONAKA, I
KOGA, Y
SPIRO, AJ
BROWNELL, AKW
SCHMIDT, B
SCHOTLAND, DL
ZUPANC, M
DEVIVO, DC
SCHON, EA
ROWLAND, LP
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 1989, 320 (20) : 1293 - 1299
[7] Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene LF-like protein localized in mitochondria
Spelbrink, JN
Li, FY
Tiranti, V
Nikali, K
Yuan, QP
Tariq, M
Wanrooij, S
Garrido, N
Comi, G
Morandi, L
Santoro, L
Toscano, A
Fabrizi, GM
Somer, H
Croxen, R
Beeson, D
Poulton, L
Suomalainen, A
Jacobs, HT
Zeviani, M
Larsson, C
[J]. NATURE GENETICS, 2001, 28 (03) : 223 - 231
[8] Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
Van Goethem, G
Dermaut, B
Löfgren, A
Martin, JJ
Van Broeckhoven, C
[J]. NATURE GENETICS, 2001, 28 (03) : 211 - 212
[9] ZEVIANI M, 1988, NEUROLOGY, V38, P1339
[10] AN AUTOSOMAL DOMINANT DISORDER WITH MULTIPLE DELETIONS OF MITOCHONDRIAL-DNA STARTING AT THE D-LOOP REGION
ZEVIANI, M
SERVIDEI, S
GELLERA, C
BERTINI, E
DIMAURO, S
DIDONATO, S
[J]. NATURE, 1989, 339 (6222) : 309 - 311

← 1 →