Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Betalipoprotein-Mangel

Ein Betalipoprotein-Mangel umfasst Erkrankungen wie Hypo- und Abetaliporpoteinämie, mit niedrigen oder fehlenden LDL-Spiegeln im Plasma.

Gliederung

Dyslipidämie
Apolipoprotein-Mangel
Betalipoprotein-Mangel
Abetalipoproteinämie
MTTP
Hypobetalipoproteinemie
ANGPTL3
APOB
Epigenetische Dyslipidämie
Hyperalphalipoproteinämie 1
Hyperalphalipoproteinämie 2
Hyperlipämie
Hypoalphalipoproteinämie
Hypobetalipoproteinemie

Referenzen:

1.

Wetterau JR et al. (1992) Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia.

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2.

Benayoun L et al. (2007) Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient.

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3.

Talmud PJ et al. (1988) Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia.

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4.

Partin JS et al. (1974) Liver ultrastructure in abetalipoproteinemia: Evolution of micronodular cirrhosis.

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5.

Shoulders CC et al. (1993) Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein.

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6.

Sharp D et al. (1993) Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia.

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7.

Musunuru K et al. (2010) Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.

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8.

Pulai JI et al. (1998) Genetic heterogeneity in familial hypobetalipoproteinemia: linkage and non-linkage to the apoB gene in Caucasian families.

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9.

Romeo S et. al. (2009) Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans.

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10.

Scanu AM et al. (1974) A study of the abnormal lipoproteins in abetalipoproteinemia.

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11.

DRUEZ G et al. () [New case of acanthocytosis: congenital erythrocytic abnormalities with retinitis, neurological disorders & degenerative stigmata].

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12.

MIER M et al. (1960) Acanthrocytosis, pigmentary degeneration of the retina and ataxic neuropathy: a genetically determined syndrome and associated metabolic disorder.

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13.

ISSELBACHER KJ et al. (1964) CONGENITAL BETA-LIPOPROTEIN DEFICIENCY: AN HEREDITARY DISORDER INVOLVING A DEFECT IN THE ABSORPTION AND TRANSPORT OF LIPIDS.

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14.

SOBREVILLA LA et al. (1964) DEMYELINATING CENTRAL NERVOUS SYSTEM DISEASE, MACULAR ATROPHY AND ACANTHOCYTOSIS (BASSEN-KORNZWEIG SYNDROME).

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15.

SINGER K et al. (1952) Acanthrocytosis; a genetic erythrocytic malformation.

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16.

BASSEN FA et al. (1950) Malformation of the erythrocytes in a case of atypical retinitis pigmentosa.

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17.

Steinberg D et al. (1979) Metabolic studies in an unusual case of asymptomatic familial hypobetalipoproteinemia with hypolphalipoproteinemia and fasting chylomicronemia.

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18.

Huang LS et al. (1990) Exclusion of linkage between the human apolipoprotein B gene and abetalipoproteinemia.

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19.

Lee J et al. (2014) Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.

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20.

Dullaart RP et al. (1986) Epitopes of apolipoprotein B-100 and B-48 in both liver and intestine. Expression and evidence for local synthesis in recessive abetalipoproteinemia.

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21.

Ross RS et al. (1988) Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproproteinemia at the molecular level.

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22.

Wei CF et al. (1985) Molecular cloning and expression of partial cDNAs and deduced amino acid sequence of a carboxyl-terminal fragment of human apolipoprotein B-100.

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23.

Blackhart BD et al. (1986) Structure of the human apolipoprotein B gene.

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24.

Huang LS et al. (1985) Human apolipoprotein B cDNA clone isolation and demonstration that liver apolipoprotein B mRNA is 22 kilobases in length.

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25.

Glickman RM et al. (1979) Immunofluorescence studies of apolipoprotein B in intestinal mucosa. Absence in abetalipoproteinemia.

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26.

Lackner KJ et al. (1986) Analysis of the apolipoprotein B gene and messenger ribonucleic acid in abetalipoproteinemia.

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27.

Herbert PN et al. (1985) Apolipoprotein B-100 deficiency. Intestinal steatosis despite apolipoprotein B-48 synthesis.

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28.

Dische MR et al. (1970) The cardiac lesions in Bassen-Kornzweig syndrome. Report of a case, with autopsy findings.

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29.

Dodge JT et al. (1967) Peroxidative hemolysis of red blood cells from patients with abetalipoproteinemia (acanthocytosis).

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30.

Brunzell JD et al. (1983) Plasma lipoproteins in familial combined hyperlipidemia and monogenic familial hypertriglyceridemia.

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31.

Sniderman A et al. (1980) Association of coronary atherosclerosis with hyperapobetalipoproteinemia [increased protein but normal cholesterol levels in human plasma low density (beta) lipoproteins].

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32.

Muller DP et al. (1982) Effect of large oral doses of vitamin E on the neurological sequelae of patients with abetalipoproteinemia.

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33.

Harding AE et al. (1982) Spinocerebellar degeneration secondary to chronic intestinal malabsorption: a vitamin E deficiency syndrome.

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34.

Illingworth DR et al. (1980) Abetalipoproteinemia. Report of two cases and review of therapy.

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35.

Muller DP et al. (1977) Long-term management of abetalipoproteinaemia. Possible role for vitamin E.

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36.

Raabe M et al. (1998) Knockout of the abetalipoproteinemia gene in mice: reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes.

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37.

Braegger CP et al. (1998) Persistence of the intestinal defect in abetalipoproteinaemia after liver transplantation.

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38.

Yuan B et al. (2000) Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22.

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39.

Sherva R et al. (2007) Evidence for a quantitative trait locus affecting low levels of apolipoprotein B and low density lipoprotein on chromosome 10 in Caucasian families.

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40.

Fazio S et al. (1991) A form of familial hypobetalipoproteinaemia not due to a mutation in the apolipoprotein B gene.

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41.

Pisciotta L et al. (2012) Characterization of three kindreds with familial combined hypolipidemia caused by loss-of-function mutations of ANGPTL3.

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42.

Martín-Campos JM et al. (2012) Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation.

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43.

Noto D et al. (2012) Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia.

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44.

Minicocci I et al. (2012) Mutations in the ANGPTL3 gene and familial combined hypolipidemia: a clinical and biochemical characterization.

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