Familial hypobetalipoproteinemia due to a novel early stop mutationCitation formats

  • External authors:
  • Paul N. Durrington
  • Valentine Charlton-Menys
  • Christopher J. Packard
  • Muriel J. Caslake
  • Jian Wang
  • John Scott
  • Robert A. Hegele

Standard

Familial hypobetalipoproteinemia due to a novel early stop mutation. / Durrington, Paul N.; Charlton-Menys, Valentine; Packard, Christopher J.; Caslake, Muriel J.; Wang, Jian; Bhatnagar, Deepak; Scott, John; Hegele, Robert A.

In: Journal of Clinical Lipidology, Vol. 2, No. 5, 10.2008, p. 384-390.

Research output: Contribution to journalArticlepeer-review

Harvard

Durrington, PN, Charlton-Menys, V, Packard, CJ, Caslake, MJ, Wang, J, Bhatnagar, D, Scott, J & Hegele, RA 2008, 'Familial hypobetalipoproteinemia due to a novel early stop mutation', Journal of Clinical Lipidology, vol. 2, no. 5, pp. 384-390. https://doi.org/10.1016/j.jacl.2008.08.446

APA

Durrington, P. N., Charlton-Menys, V., Packard, C. J., Caslake, M. J., Wang, J., Bhatnagar, D., Scott, J., & Hegele, R. A. (2008). Familial hypobetalipoproteinemia due to a novel early stop mutation. Journal of Clinical Lipidology, 2(5), 384-390. https://doi.org/10.1016/j.jacl.2008.08.446

Vancouver

Durrington PN, Charlton-Menys V, Packard CJ, Caslake MJ, Wang J, Bhatnagar D et al. Familial hypobetalipoproteinemia due to a novel early stop mutation. Journal of Clinical Lipidology. 2008 Oct;2(5):384-390. https://doi.org/10.1016/j.jacl.2008.08.446

Author

Durrington, Paul N. ; Charlton-Menys, Valentine ; Packard, Christopher J. ; Caslake, Muriel J. ; Wang, Jian ; Bhatnagar, Deepak ; Scott, John ; Hegele, Robert A. / Familial hypobetalipoproteinemia due to a novel early stop mutation. In: Journal of Clinical Lipidology. 2008 ; Vol. 2, No. 5. pp. 384-390.

Bibtex

@article{19ef910b4a9f4d82b83d52bcba241c71,
title = "Familial hypobetalipoproteinemia due to a novel early stop mutation",
abstract = "Background: Familial hypobetalipoproteinemia (FHBL) is a co-dominant disorder associated with low circulating levels of low-density lipoprotein (LDL) cholesterol and apolipoprotein B100 (ApoB). A proband was identified in whom the condition was due to an E110X mutation of APOB, creating a particularly early truncation of ApoB in the region of the molecule necessary for very-low-density lipoprotein (VLDL) assembly. The mutation was also associated with nonalcoholic fatty liver disease. Objective: To assess the effect of the mutation on metabolism and the formation of VLDL and LDL subfractions. Results: Both the proband and his son, who had the same mutation, had low LDL cholesterol and decreased ApoB, but an increased small-dense LDL level. Lipoprotein profiles were normal in the proband's sister and grandson, in whom the mutation was absent. In the proband. there was a profoundly diminished rate of production of VLDL-2. VLDL-1 production, however, was relatively preserved and, because of its decreased catabolism, its pool size was increased. Direct formation of intermediate-density lipoprotein (IDL) and LDL was undetectable. Intermediate-density lipoprotein catabolism was greatly increased and its conversion to LDL was increased. The LDL produced was entirely small-dense LDL. High-density lipoprotein cholesterol levels were low, perhaps also related to the relative increase in VLDL-1, which is an avid acceptor of cholesteryl ester. Conclusions: This novel mutation provides evidence to support the hypothesis that hepatic production of large VLDL-1 leads to the creation of small-dense LDL. {\textcopyright} 2008 National Lipid Association.",
keywords = "Apolipoprotein B gene, Familial hypobetalipoproteinemia, HDL composition, Small-dense LDL",
author = "Durrington, {Paul N.} and Valentine Charlton-Menys and Packard, {Christopher J.} and Caslake, {Muriel J.} and Jian Wang and Deepak Bhatnagar and John Scott and Hegele, {Robert A.}",
year = "2008",
month = oct,
doi = "10.1016/j.jacl.2008.08.446",
language = "English",
volume = "2",
pages = "384--390",
journal = "Journal of Clinical Lipidology",
issn = "1933-2874",
publisher = "Elsevier BV",
number = "5",

}

RIS

TY - JOUR

T1 - Familial hypobetalipoproteinemia due to a novel early stop mutation

AU - Durrington, Paul N.

AU - Charlton-Menys, Valentine

AU - Packard, Christopher J.

AU - Caslake, Muriel J.

AU - Wang, Jian

AU - Bhatnagar, Deepak

AU - Scott, John

AU - Hegele, Robert A.

PY - 2008/10

Y1 - 2008/10

N2 - Background: Familial hypobetalipoproteinemia (FHBL) is a co-dominant disorder associated with low circulating levels of low-density lipoprotein (LDL) cholesterol and apolipoprotein B100 (ApoB). A proband was identified in whom the condition was due to an E110X mutation of APOB, creating a particularly early truncation of ApoB in the region of the molecule necessary for very-low-density lipoprotein (VLDL) assembly. The mutation was also associated with nonalcoholic fatty liver disease. Objective: To assess the effect of the mutation on metabolism and the formation of VLDL and LDL subfractions. Results: Both the proband and his son, who had the same mutation, had low LDL cholesterol and decreased ApoB, but an increased small-dense LDL level. Lipoprotein profiles were normal in the proband's sister and grandson, in whom the mutation was absent. In the proband. there was a profoundly diminished rate of production of VLDL-2. VLDL-1 production, however, was relatively preserved and, because of its decreased catabolism, its pool size was increased. Direct formation of intermediate-density lipoprotein (IDL) and LDL was undetectable. Intermediate-density lipoprotein catabolism was greatly increased and its conversion to LDL was increased. The LDL produced was entirely small-dense LDL. High-density lipoprotein cholesterol levels were low, perhaps also related to the relative increase in VLDL-1, which is an avid acceptor of cholesteryl ester. Conclusions: This novel mutation provides evidence to support the hypothesis that hepatic production of large VLDL-1 leads to the creation of small-dense LDL. © 2008 National Lipid Association.

AB - Background: Familial hypobetalipoproteinemia (FHBL) is a co-dominant disorder associated with low circulating levels of low-density lipoprotein (LDL) cholesterol and apolipoprotein B100 (ApoB). A proband was identified in whom the condition was due to an E110X mutation of APOB, creating a particularly early truncation of ApoB in the region of the molecule necessary for very-low-density lipoprotein (VLDL) assembly. The mutation was also associated with nonalcoholic fatty liver disease. Objective: To assess the effect of the mutation on metabolism and the formation of VLDL and LDL subfractions. Results: Both the proband and his son, who had the same mutation, had low LDL cholesterol and decreased ApoB, but an increased small-dense LDL level. Lipoprotein profiles were normal in the proband's sister and grandson, in whom the mutation was absent. In the proband. there was a profoundly diminished rate of production of VLDL-2. VLDL-1 production, however, was relatively preserved and, because of its decreased catabolism, its pool size was increased. Direct formation of intermediate-density lipoprotein (IDL) and LDL was undetectable. Intermediate-density lipoprotein catabolism was greatly increased and its conversion to LDL was increased. The LDL produced was entirely small-dense LDL. High-density lipoprotein cholesterol levels were low, perhaps also related to the relative increase in VLDL-1, which is an avid acceptor of cholesteryl ester. Conclusions: This novel mutation provides evidence to support the hypothesis that hepatic production of large VLDL-1 leads to the creation of small-dense LDL. © 2008 National Lipid Association.

KW - Apolipoprotein B gene

KW - Familial hypobetalipoproteinemia

KW - HDL composition

KW - Small-dense LDL

U2 - 10.1016/j.jacl.2008.08.446

DO - 10.1016/j.jacl.2008.08.446

M3 - Article

C2 - 21291764

VL - 2

SP - 384

EP - 390

JO - Journal of Clinical Lipidology

JF - Journal of Clinical Lipidology

SN - 1933-2874

IS - 5

ER -