A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III

被引:82
作者
Lamantea, E
Carrara, F
Mariotti, C
Morandi, L
Tiranti, V
Zeviani, M [1 ]
机构
[1] Natl Neurol Inst C Besta, Div Biochem & Genet, I-20133 Milan, Italy
[2] C Besta Natl Neurol Inst, Div Neuromuscular Disorders, I-20133 Milan, Italy
关键词
cytochrome b; mtDNA mutation; respiratory chain complexes; myopathy;
D O I
10.1016/S0960-8966(01)00244-9
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
We identified a novel mitochondrial cytochrome b mutation in a patient with progressive exercise intolerance, muscle cramps and lactic acidosis. A marked reduction of the enzymatic activities of respiratory chain complexes I and III was found in muscle biopsy. The mutation was a heteroplasmic C15800T transition, determining a stop-codon at amino acid position 352 (Q352X). Mutant mtDNA was approximately 45% of total genomes in muscle, while it was absent in all of the other examined tissues of the patient and in lymphocytes of the patient's mother. Clinical presentation and laboratory findings strongly support the hypothesis that this mutation is the primary cause of the disease in our patient. (C) 2002 Elsevier Science B.V. All rights reserved.
引用
收藏
页码:49 / 52
页数:4
相关论文
共 11 条
  • [1] A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy
    Andreu, AL
    Checcarelli, N
    Iwata, S
    Shanske, S
    DiMauro, S
    [J]. PEDIATRIC RESEARCH, 2000, 48 (03) : 311 - 314
  • [2] Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA
    Andreu, AL
    Hanna, MG
    Reichmann, H
    Bruno, C
    Penn, AS
    Tanji, K
    Pallotti, F
    Iwata, S
    Bonilla, E
    Lach, B
    Morgan-Hughes, J
    DiMauro, S
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1999, 341 (14) : 1037 - 1044
  • [3] Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene
    Budde, SMS
    van den Heuvel, LPWJ
    Janssen, AJ
    Smeets, RJP
    Buskens, CAF
    DeMeirleir, L
    Van Coster, R
    Baethmann, M
    Voit, T
    Trijbels, JMF
    Smeitink, JAM
    [J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2000, 275 (01) : 63 - 68
  • [4] De Coo IFM, 1999, ANN NEUROL, V45, P130, DOI 10.1002/1531-8249(199901)45:1<130::AID-ART21>3.0.CO
  • [5] 2-Z
  • [6] Di Mauro S, 1997, MOL GENETIC BASIS NE, P201
  • [7] A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance
    Dumoulin, R
    Sagnol, I
    Ferlin, T
    Bozon, D
    Stepien, G
    Mousson, B
    [J]. MOLECULAR AND CELLULAR PROBES, 1996, 10 (05) : 389 - 391
  • [8] Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene
    Keightley, JA
    Anitori, R
    Burton, MD
    Quan, F
    Buist, NRM
    Kennaway, NG
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (06) : 1400 - 1410
  • [9] A novel mutation (8342G→A) in the mitochondrial tRNALys gene associated with progressive external ophthalmoplegia and myoclonus
    Tiranti, V
    Carrara, F
    Confalonieri, P
    Mora, M
    Maffei, RM
    Lamantea, E
    Zeviani, M
    [J]. NEUROMUSCULAR DISORDERS, 1999, 9 (02) : 66 - 71
  • [10] A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency
    Valnot, I
    Kassis, J
    Chretien, D
    de Lonlay, P
    Parfait, B
    Munnich, A
    Kachaner, J
    Rustin, P
    Rötig, A
    [J]. HUMAN GENETICS, 1999, 104 (06) : 460 - 466