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Studies on the metabolic defect in Broad‐ß disease (hyperlipoproteinaemia type III)
Author(s) -
Utermann G.,
Canzler H.,
Hees M.,
Jaeschke M.,
Mühlfellner G.,
Schoenborn W.,
Vogelberg K. H.
Publication year - 1977
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1977.tb00917.x
Subject(s) - very low density lipoprotein , medicine , endocrinology , apolipoprotein b , lipoprotein , isoelectric focusing , abnormality , apolipoprotein e , metabolic disorder , biochemistry , chemistry , biology , disease , cholesterol , enzyme , psychiatry
The apoprotein composition of the main lipoprotein fractions (VLDL, LDL‐1, LDL‐2 and HDL) was studied initially in 15 patients with Broad‐β disease. Analytical isoelectric focusing of urea‐soluble apo‐VLDL and apo LDL‐1 demonstrated a variant pattern of the polymorphic Apoprotein E with a deficient Apo E‐III band in all patients. The Apo E‐III deficiency pattern was seen in only six out of 304 hyperlipidaemic controls. These six Apo E‐III deficient controls had characteristic signs of Broad+ disease, and thus represented patients not previously recognized as having the disorder. The Apo E focusing patterns were constant on repeated examinations and were stable under different metabolic conditions. The data show that Apo E‐III deficiency in VLDL is a specific qualitative marker for Broad‐β disease, allowing an unequivocal diagnosis that had not been possible previously. Indirect evidence suggests that Apo E‐III deficiency is the basic lipoprotein abnormality underlying the familial dyslipoproteinaemia.