X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria

Kelley, Richard I.; Cheatham, John P.; Clark, Bernard J.; Nigro, Michael A.; Powell, Berkley R.; Sherwood, G.; Sladky, John T.; Swisher, William P.

doi:10.1016/s0022-3476(05)80289-6

Cited by 260 publications

(208 citation statements)

References 29 publications

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“…Barth syndrome (OMIM # 302060) is the only human genetic disorder discovered where alterations of CL metabolism are a primary cause of disease [20,21]. This X-linked genetic disorder is due to mutations in the tafazzin gene (TAZ) located on region Xq28 [22].…”

Section: Cardiolipin Synthesismentioning

confidence: 99%

Cardiolipin: Setting the beat of apoptosis

2007

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Cardiolipin (CL) is a mitochondria-specific phospholipid which is known to be intimately linked with the mitochondrial bioenergetic machinery. Accumulating evidence now suggests that this unique lipid also has active roles in several of the mitochondria-dependant steps of apoptosis. CL is closely associated with cytochrome c at the outer leaflet of the mitochondrial inner membrane. This interaction makes the process of cytochrome c release from mitochondria more complex than previously assumed, requiring more than pore formation in the mitochondrial outer membrane. While CL peroxidation could be crucial for enabling cytochrome c dissociation from the mitochondrial inner membrane, cytochrome c itself catalyzes CL peroxidation. Moreover, peroxy-CL directly activates the release of cytochrome c and other apoptogenic factors from the mitochondria. CL is also directly involved in mitochondrial outer membrane permeabilization by enabling docking and activation of proapoptotic Bcl-2 proteins. It appears therefore that CL has multiple roles in apoptosis and that CL metabolism contributes to the complexity of the apoptotic process.

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Section: Cardiolipin Synthesismentioning

confidence: 99%

Cardiolipin: Setting the beat of apoptosis

2007

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“…Previous studies on the respiratory chain in skeletal muscle showed impaired oxidative phosphorylation at the level of complexes III and IV (Barth et al 1983) and decreased activity of complex IV (Christodoulou et al 1994). Results of clinical experiments pertaining to the organic acid abnormality and the low serum cholesterol included absent effect of leucine loading on the excretion of 3-methylglutaconic acid (Kelley et al 1991;Christodoulou et al 1994); normal activities of enzymes in the leucine pathway (3-methylglutaconyl-CoA hydratase (EC 4.2.1.18), 3-hydroxy-3-methylglutaryl-CoA lyase (EC 4.1.3.4), 3-hydroxy-3-methylglutaryl-CoA reductase); and normal in vitro biosynthesis of [14C]cholesterol from [J4C]acetate (Gibson et al 1991).…”

mentioning

confidence: 91%

“…X-Linked cardioskeletal myopathy, neutropenia and abnormal mitochondria (McKusick 302060; 3-methylglutaconic aciduria type 2; Barth syndrome) represents a rare metabolic disorder with a distinct clinical phenotype, reported so far from Europe (Barth et al 1983), North-America (Gibson et al 1991;Kelley et al 1991) and Australia (Ad6s et al 1993;Christodoulou et al 1994). It has the following clinical and biochemical profile: dilated cardiomyopathy; neutropenia due to maturation arrest; neuromuscular weakness; absence of cerebral involvement; and diminished statural growth.…”

mentioning

confidence: 99%

“…It has the following clinical and biochemical profile: dilated cardiomyopathy; neutropenia due to maturation arrest; neuromuscular weakness; absence of cerebral involvement; and diminished statural growth. Clinical biochemical features include variable lactic acidaemia and lactic aciduria (Barth et al 1983); increased urinary excretion of 3-methylglutaconic acid, 3-methylglutaric acid and 2-ethylhydracrylic acid (Kelley et al 1991;Gibson et al 1991); and low serum cholesterol (Kelley et al 1991). Linkage analysis assigned the disease to distal Xq28 (Bolhuis et al 1991;Adds et al 1993;Christodoulou et al 1994).…”

mentioning

confidence: 99%

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X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome): Respiratory‐chain abnormalities in cultured fibroblasts

Barth

Bogert

Bolhuis

et al. 1996

J of Inher Metab Disea

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“…1-3 3-Methylglutaconic aciduria and lactic acidosis can represent early biochemical markers. 1, [4][5][6] The estimated prevalence of BTHS is around 1/300 000-400 000 live births (BSF, http://www.barthsyndrome.org/home), but evidence is growing that the disease may be underdiagnosed. 2 BTHS is caused by mutations in the TAZ gene at Xq28, 7 which encodes tafazzin, an acyltransferase which promotes molecular symmetry among cardiolipin (CL) species with different fatty acyl moieties.…”

Section: Introductionmentioning

confidence: 99%

Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome

et al. 2015

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Infantile-onset skeletal myopathy Barth syndrome (OMIM #302060) is caused by mutations in the X-linked TAZ gene and hence usually manifests itself only in hemizygous males. Confirmatory testing is provided by mutational analysis of the TAZ gene and/or by biochemical dosage of the monolysocardiolipin/tetralinoleoyl cardiolipin ratio. Heterozygous females do not usually display a clinical phenotype but may undergo molecular genetic prenatal diagnosis during pregnancy. We characterized two novel and non-identical TAZ gene rearrangements in the offspring of a single female carrier of Barth syndrome. The hg19chrX:g.153634427_153644361delinsKP_123427.1 TAZ gene rearrangement was identified in her affected son, whereas the NM_000116.3(TAZ)c. − 72_109+51del TAZ gene deletion was identified in a male foetus during a subsequent pregnancy. The unaffected mother was surprisingly found to harbour both variants in addition to a wild-type TAZ allele. A combination of breakpoint junction sequencing, linkage analysis and assessment of allelic dosage revealed that the two variants had originated independently from an apparently unstable/mutable TAZ maternal allele albeit via different mutational mechanisms. We conclude that molecular prenatal diagnosis in Barth syndrome families with probands carrying TAZ gene rearrangements should include investigation of the entire coding region of the TAZ gene. The identification of the breakpoint junctions of such gross gene rearrangements is important to ensure accurate ascertainment of carriership with a view to providing appropriate genetic counselling.

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X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria

Cited by 260 publications

References 29 publications

Cardiolipin: Setting the beat of apoptosis

Cardiolipin: Setting the beat of apoptosis

X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome): Respiratory‐chain abnormalities in cultured fibroblasts

Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome

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