2006
DOI: 10.1016/j.febslet.2006.07.022
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Barth syndrome, a human disorder of cardiolipin metabolism

Abstract: Barth syndrome is an X-linked recessive disease caused by mutations in the tafazzin gene. Patients have reduced concentration and altered composition of cardiolipin, the specific mitochondrial phospholipid, and they have variable clinical findings, often including heart failure, myopathy, neutropenia, and growth retardation. This article provides an overview of the molecular basis of Barth syndrome. It is argued that tafazzin, a phospholipid acyltransferase, is involved in acyl-specific remodeling of cardiolip… Show more

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Cited by 276 publications
(248 citation statements)
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References 50 publications
(116 reference statements)
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“…Mitochondria are centrally involved in neurotransmission as well as in the metabolic plasticity necessary for neuronal survival (65). Many studies have described abnormal, compromised, or enlarged mitochondria in aging, multiple neurologic diseases, and apoptosis (49,51,53,54). Aging is associated with a decreased capacity to generate ATP by oxidative phosphorylation due primarily to diminished complex I and IV activity in mitochondria (6,64,66).…”
Section: Discussionmentioning
confidence: 99%
“…Mitochondria are centrally involved in neurotransmission as well as in the metabolic plasticity necessary for neuronal survival (65). Many studies have described abnormal, compromised, or enlarged mitochondria in aging, multiple neurologic diseases, and apoptosis (49,51,53,54). Aging is associated with a decreased capacity to generate ATP by oxidative phosphorylation due primarily to diminished complex I and IV activity in mitochondria (6,64,66).…”
Section: Discussionmentioning
confidence: 99%
“…27 It is essential for mitochondrial function, and dysregulation of cardiolipin induces heart failure. 28 To further confirm that mitochondrial dysfunction is the primary cause of heart failure but not secondary to the contractile dysfunction, we cultured primary cardiac myocytes isolated from RAMP2 flox/flox-αMHC-MerCreMer Tg embryos. We then induced RAMP2 deletion in vitro and proved mitochondrial dysfunction and enhanced ROS production occurred in a RAMP2 deletion-dependent manner.…”
Section: Discussionmentioning
confidence: 99%
“…The pellet was resuspended in HM buffer without BSA, and the protein concentration of the resuspended mitochondrial fractions was determined using the BCA protein assay (Thermo Scientifi c, Rockford, IL). disease states ( 12,13,(15)(16)(17)(18)(19). This diversity is regulated by differences in cardiolipin biosynthesis and catabolism, remodeling acyl selectivities, and transacylase as well as acyltransferase activities ( 20,21 ).…”
Section: Mitochondrial Isolationmentioning
confidence: 99%