Primary and secondary CoQ10 deficiencies in humans

被引：83
|
作者：
Quinzii, Catarina M. [1 ]
Hirano, Michio [1 ]
机构：
[1] Columbia Univ, Med Ctr, Dept Neurol, New York, NY 10032 USA
来源：
BIOFACTORS | 2011年 / 37卷 / 05期
关键词：
coenzyme Q(10); respiratory chain activity; ROS; oxidative stress; COENZYME Q(10) DEFICIENCY; CEREBELLAR-ATAXIA; MITOCHONDRIAL ENCEPHALOMYOPATHY; UBIQUINONE DEFICIENCY; OXIDATIVE STRESS; MYOPATHIC FORM; LEIGH-SYNDROME; FOLLOW-UP; MUSCLE; MUTATIONS;
D O I：
10.1002/biof.155
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
CoQ(10) deficiencies are clinically and genetically heterogeneous. This syndrome has been associated with five major clinical phenotypes: (1) encephalomyopathy, (2) severe infantile multisystemic disease, (3) cerebellar ataxia, (4) isolated myopathy, and (5) nephrotic syndrome. In a few patients, pathogenic mutations have been identified in genes involved in the biosynthesis of CoQ(10) (primary CoQ(10) deficiencies) or in genes not directly related to CoQ(10) biosynthesis (secondary CoQ(10) deficiencies). Respiratory chain defects, ROS production, and apoptosis variably contribute to the pathogenesis of primary CoQ(10) deficiencies.
引用
收藏
页码：361 / 365
页数：5
相关论文
共 50 条
  • [1] Human CoQ10 deficiencies
    Quinzii, C. M.
    Lopez, L. C.
    Naini, A.
    DiMauro, S.
    Hirano, M.
    BIOFACTORS, 2008, 32 (1-4) : 113 - 118
  • [2] Characterization of CoQ10 biosynthesis in fibroblasts of patients with primary and secondary CoQ10 deficiency
    Bujan, Nuria
    Arias, Angela
    Montero, Raquel
    Garcia-Villoria, Judit
    Lissens, Willy
    Seneca, Sara
    Espinos, Carmen
    Navas, Placido
    De Meirleir, Linda
    Artuch, Rafael
    Briones, Paz
    Ribes, Antonia
    JOURNAL OF INHERITED METABOLIC DISEASE, 2014, 37 (01) : 53 - 62
  • [3] Primary coenzyme Q10 (CoQ10) deficiencies and related nephropathies
    Fatih Ozaltin
    Pediatric Nephrology, 2014, 29 : 961 - 969
  • [4] Primary coenzyme Q10 (CoQ10) deficiencies and related nephropathies
    Ozaltin, Fatih
    PEDIATRIC NEPHROLOGY, 2014, 29 (06) : 961 - 969
  • [5] Benefits of CoQ10 supplementation in patients with SRNS due to primary CoQ10 deficiency
    Wang, Monica
    NATURE REVIEWS NEPHROLOGY, 2022, 18 (08) : 481 - 481
  • [6] Genetics of primary CoQ10 deficiency
    Naini, A. B.
    Quinzii, C. M.
    Navas, P.
    DiMauro, S.
    Hirano, M.
    CURRENT GENOMICS, 2006, 7 (06) : 343 - 349
  • [7] CoQ10 deficiencies and MNGIE: Two treatable mitochondrial disorders
    Hirano, Michio
    Garone, Caterina
    Quinzii, Catarina M.
    BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS, 2012, 1820 (05): : 625 - 631
  • [8] CoQ10
    不详
    AGRO FOOD INDUSTRY HI-TECH, 2005, 16 (06): : 37 - 37
  • [9] ANALYSIS OF COQ SYNTHESIS USING LABELED NON RADIOACTIVE SUBSTRATES. APPLICATION FOR THE DIAGNOSIS OF PRIMARY COQ10 DEFICIENCIES
    Bujan, N.
    Arias, A.
    Montero, R.
    Garcia-Villoria, J.
    Lissens, W.
    Seneca, S.
    Espinos, C.
    De Meirleir, L.
    Artuch, R.
    Briones, P.
    Ribes, A.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2012, 35 : S126 - S126
  • [10] Introduction to CoQ10
    Frankovic, Mirjana
    AGRO FOOD INDUSTRY HI-TECH, 2006, 17 (06): : 12 - 13
12345