The Role of the Microsomal Triglygeride Transfer Protein in Abetalipoproteinemia

Berriot-Varoqueaux, Nathalie; Aggerbeck, L. P.; Samson-Bouma, Marie-Elisabeth; Wetterau, John R.

doi:10.1146/annurev.nutr.20.1.663

Cited by 287 publications

(258 citation statements)

References 185 publications

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“…Abetalipoproteinemia (ABL), a multisystem disorder caused by a defect in lipoprotein metabolism, is characterized by acanthocytosis, atypical pigmentary retinopathy and spinocerebellar degeneration 28,29 . In the first year of life, main manifestations are chronic diarrhea and failure to thrive.…”

Section: Abetalipoproteinemia and Hypobetalipoproteinemiamentioning

confidence: 99%

“…As disease progresses, atypical pigmentary retinopathy characterized by small, irregularly distributed white spots, and night and color blindness is detected 29 . Clinical manifestations of ABL are secondary to deficient absorption of the lipid-soluble vitamins A, D, E, and K 1,28 .…”

Section: Abetalipoproteinemia and Hypobetalipoproteinemiamentioning

confidence: 99%

“…Apolipoprotein B (ApoB) is the main protein of both VLDL and LDL, and their assembly is dependent on microsomal triglyceride transfer protein (MTP) 28 . Mutations in the gene coding for the large (88 kD) subunit of MTP is responsible for ABL and determine very low levels of LDL and VLDL cholesterol.…”

Section: Abetalipoproteinemia and Hypobetalipoproteinemiamentioning

confidence: 99%

“…Decreased levels of vitamins A, K, and E, anemia, very low sedimentation rate, increased prothrombin time and elevated creatine kinase are also observed. Deficient MTP can also lead to lipid infiltration of small bowel mucosa and hepatic steatosis 28,29 . Nerve conduction velocity usually discloses sensory axonal peripheral neuropathy 1,29 .…”

Section: Abetalipoproteinemia and Hypobetalipoproteinemiamentioning

confidence: 99%

“…It is also recommended a low fat diet combined with essential fatty acid supplementation 28,29 . Coagulation tests are used to monitor vitamin K and serum levels of vitamin A and E to check supplementation adequacy for these vitamins 28,29 .…”

Section: Abetalipoproteinemia and Hypobetalipoproteinemiamentioning

confidence: 99%

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Autosomal recessive ataxias: 20 types, and counting

Embiruçu

Martyn

Schlesinger

et al. 2009

Arq. Neuro-Psiquiatr.

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-More than 140 years after the first description of Friedreich ataxia, autosomal recessive ataxias have become one of the more complex fields in Neurogenetics. Currently this group of diseases contains more than 20 clinical entities and an even larger number of associated genes. Some disorders are very rare, restricted to isolated populations, and others are found worldwide. An expressive number of recessive ataxias are treatable, and responsibility for an accurate diagnosis is high. The purpose of this review is to update the practitioner on clinical and pathophysiological aspects of these disorders and to present an algorithm to guide the diagnosis.KEY WORDS: autosomal recessive ataxias, cerebellar ataxia, cerebellum, Friedreich ataxia.Ataxias autossômicas recessivas: 20 tipos e muito mais resumo -Mais de 140 anos após a primeira descrição da ataxia de Friedreich, as ataxias autossômicas recessivas se transformaram em um dos mais complexos campos da Neurogenética. Atualmente, este grupo de doenças é composto por mais de 20 entidades clínicas e possui um número ainda maior de genes associados. Algumas doenças são muito raras, tendo sido observadas apenas em populações isoladas, enquanto que outras são encontradas no mundo todo. Um número expressivo de ataxias é tratável, e a responsabilidade em se fazer um diagnóstico correto é alta. A finalidade desta revisão é a de atualizar o neurologista a respeito dos principais aspectos clínicos e fisiopatológicos destas doenças e de apresentar um algoritmo para auxiliar a sua investigação e o seu diagnóstico.

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Section: Abetalipoproteinemia and Hypobetalipoproteinemiamentioning

confidence: 99%

Section: Abetalipoproteinemia and Hypobetalipoproteinemiamentioning

confidence: 99%

Section: Abetalipoproteinemia and Hypobetalipoproteinemiamentioning

confidence: 99%

Section: Abetalipoproteinemia and Hypobetalipoproteinemiamentioning

confidence: 99%

Section: Abetalipoproteinemia and Hypobetalipoproteinemiamentioning

confidence: 99%

See 3 more Smart Citations

Autosomal recessive ataxias: 20 types, and counting

Embiruçu

Martyn

Schlesinger

et al. 2009

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

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Slowly Progressive Ataxia, Neuropathy, and Oculomotor Dysfunction

et al. 2012

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A 54-year-old white man presented with slowly progressive incoordination and weakness. He had normal motor development until, at 16 years of age, he noted difficulty walking and difficulty reading despite normal visual acuity. By the fourth decade of life, he developed poor coordination and balance, as well as inability to walk. In subsequent years, he developed progressive, painless sensory loss, weakness, and atrophy in his distal arms and legs. His vision problems progressed and he also developed dysarthria without dysphagia. Family history was negative except for an uncle who was described as "clumsy." Results of an oculomotor examination were notable for increased square-wave jerks, persistent bilateral gazeevoked nystagmus with saccadic pursuit, intact vestibulo-ocular reflex, and saccadic dysmetria. He had a mixed dysarthria with flaccid and ataxic characteristics and severe weakness and atrophy in the distal limb muscles. Sensation was diminished to the midforearms and midthighs in all modalities. Deep tendon reflexes were absent throughout, with no response to plantar stimulation. He had marked appendicular ataxia with mild axial ataxia. Magnetic resonance imaging of the brain revealed severe cerebellar atrophy. Results of an electrodiagnostic study suggested a severe axonal sensorimotor polyneuropathy with active and chronic denervation. The differential diagnosis in a patient with ataxia, neuropathy, and oculomotor features is discussed; a methodical approach to the diagnostic workup is suggested; and the final diagnosis is revealed.We herein describe a patient with slowly progressive ataxia, neuropathy, and oculomotor dysfunction. We discuss the differential diagnosis, suggest a methodical approach to the diagnostic workup, and reveal the final diagnosis.

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Microsomal Triglyceride Transfer Protein

Wetterau¹

2002

Wiley Encyclopedia of Molecular Medicine

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Microsomal triglyceride transfer protein (MTP)is critical for the assembly and secretion of apolipoprotein B (apoB) lipoproteins. Its activity is classically measured by incubating purified MTP or cellular homogenates with donor vesicles containing radiolabeled lipids, precipitating the donor vesicles, and measuring the radioactivity transferred to acceptor vesicles. Here, we describe a simple, rapid, and sensitive fluorescence assay for MTP. In this assay, purified MTP or cellular homogenates are incubated with small unilamellar donor vesicles containing quenched fluorescent lipids (triacylglycerols, cholesteryl esters, and phospholipids) and different types of acceptor vesicles made up of phosphatidylcholine or phosphatidylcholine and triacylglycerols. Increases in fluorescence attributable to MTP-mediated lipid transfer are measured after 30 min. MTP's lipid transfer activity could be assayed using apoB lipoproteins but not with high density lipoproteins as acceptors. The assay was used to measure MTP activity in cell and tissue homogenates. Furthermore, the assay was useful in studying the inhibition of the cellular as well as purified MTP by its antagonists.This new method is amenable to automation and can be easily adopted for large-scale, high-throughput screening. -Athar, H., J. Iqbal, X-C. Jiang, and M. M. Hussain. A simple, rapid, and sensitive fluorescence assay for microsomal triglyceride transfer protein. J. Lipid Res. 2004. 45: 764-772. Supplementary key words lipoprotein assembly • cholesteryl esters • phospholipids • triacylglycerol • apolipoprotein B Abbreviations: apoB, apolipoprotein B; CE, cholesteryl ester; PC, phosphatidylcholine; PL, phospholipid; MTP, microsomal triglyceride transfer protein; TAG, triacylglycerol.

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The Role of the Microsomal Triglygeride Transfer Protein in Abetalipoproteinemia

Cited by 287 publications

References 185 publications

Autosomal recessive ataxias: 20 types, and counting

Autosomal recessive ataxias: 20 types, and counting

Slowly Progressive Ataxia, Neuropathy, and Oculomotor Dysfunction

Microsomal Triglyceride Transfer Protein

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