Vitamin E deficiency ataxia with (744 del A) mutation on α-TTP gene: genetic and clinical peculiarities in Moroccan patients

Marzouki, Naima; Benomar, Ali; Yahyaoui, M.; Birouk, N.; Elouazzani, Mohamed; Chkili, T; Benlemlih, Mohammed

doi:10.1016/j.ejmg.2005.01.014

Cited by 46 publications

(12 citation statements)

References 22 publications

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“…Initial workup included reduced serum levels of ApoA1, high-density lipoprotein (HDL), and vitamin E, consistent with a diagnosis of ataxia with vitamin E deficiency (MIM 277460). The reduced serum levels were within the range of other patients we have evaluated with this condition, although they lacked the common Moroccan 744delA mutation in the TTPA gene (30). However, patients showed nominal improvement in function upon administration of daily exogenous vitamin E, supporting the diagnosis.…”

Section: Resultssupporting

confidence: 62%

Exome Sequencing Can Improve Diagnosis and Alter Patient Management

et al. 2012

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Section: Resultssupporting

confidence: 62%

Exome Sequencing Can Improve Diagnosis and Alter Patient Management

et al. 2012

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“…Patients with 744 del A mutation on ATTP gene were reported to show cardiomyopathy as evidenced by echocardiography, but this was not observed in all patients with this disorder [54]. In the present studies we have not investigated for evidences of cardiomyopathy in ATTP −/− mice.…”

Section: Discussionmentioning

confidence: 68%

Genome‐wide screening of alpha‐tocopherol sensitive genes in heart tissue from alpha‐tocopherol transfer protein null mice (ATTP^−/−)

et al. 2007

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Alpha-tocopherol transfer protein (ATTP) null mice (ATTP À/À ) have a systemic deficiency of alpha-tocopherol (AT). The heart AT levels of ATTP À/À are <10% of those in ATTP +/+ mice. The genomic responses of heart to AT deficiency were determined in 3 months old male ATTP À/À mice and compared with their ATTP +/+ littermate controls using Affymetrix 430A 2.0 high density oligonucleotide arrays. Differential analysis of $13 000 genes identified repression of genes related to immune system and activation of genes related to lipid metabolism and inflammation with no significant change in the expression of classical antioxidant genes (catalase, superoxide dismutase, glutathione peroxidase) in ATTP À/À as compared to ATTP +/+ mice. The present data identifies novel classes of AT sensitive genes in heart tissue.

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“…AVED is caused by defects in TTPA, the enzyme responsible for the uptake of the essential antioxidant, vitamin E, from the gut [59]. Similarly, in abetalipoproteinemia defective uptake of lipid soluble vitamins leads to loss of vitamin E and A [60].…”

Section: Reactive Chemical Species Homeostasismentioning

confidence: 99%

Protecting the mitochondrial powerhouse

Scheibye‐Knudsen

Fang

Croteau

et al. 2015

Trends in Cell Biology

276

214

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Mitochondria are the oxygen consuming power plants of the cells. They provide a critical milieu for the synthesis of many essential molecules and allow for highly efficient energy production through oxidative phosphorylation. The use of oxygen is, however, a double-edged sword that on the one hand supplies ATP for cellular survival, and on the other leads to the formation of damaging reactive oxygen species. Different quality control pathways maintain mitochondria function including mitochondrial DNA replication and repair, fusion-fission dynamics, free radical scavenging and mitophagy. Further, failure of these pathways may lead to human disease. We review these pathways and propose a strategy towards a treatment for these often untreatable disorders.

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Vitamin E deficiency ataxia with (744 del A) mutation on α-TTP gene: genetic and clinical peculiarities in Moroccan patients

Cited by 46 publications

References 22 publications

Exome Sequencing Can Improve Diagnosis and Alter Patient Management

Exome Sequencing Can Improve Diagnosis and Alter Patient Management

Genome‐wide screening of alpha‐tocopherol sensitive genes in heart tissue from alpha‐tocopherol transfer protein null mice (ATTP^−/−)

Protecting the mitochondrial powerhouse

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Vitamin E deficiency ataxia with (744 del A) mutation on α-TTP gene: genetic and clinical peculiarities in Moroccan patients

Cited by 46 publications

References 22 publications

Exome Sequencing Can Improve Diagnosis and Alter Patient Management

Exome Sequencing Can Improve Diagnosis and Alter Patient Management

Genome‐wide screening of alpha‐tocopherol sensitive genes in heart tissue from alpha‐tocopherol transfer protein null mice (ATTP−/−)

Protecting the mitochondrial powerhouse

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Product

Resources

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Genome‐wide screening of alpha‐tocopherol sensitive genes in heart tissue from alpha‐tocopherol transfer protein null mice (ATTP^−/−)