Familial dysbetalipoproteinemia
Encyclopedia
Familial dysbetalipoproteinemia (also known as "Broad beta disease" and "Remnant removal disease") is a condition characterized by increased LDL, triglyceride
, and cholesterol
levels, and decreased HDL levels. The condition is caused by a deficiency in apolipoprotein E
that serves as a ligand
for chylomicron
and IDL
receptors in the liver
: The normal ApoE turns into the defective ApoE2 form.
Triglyceride
A triglyceride is an ester derived from glycerol and three fatty acids. There are many triglycerides, depending on the oil source, some are highly unsaturated, some less so....
, and cholesterol
Cholesterol
Cholesterol is a complex isoprenoid. Specifically, it is a waxy steroid of fat that is produced in the liver or intestines. It is used to produce hormones and cell membranes and is transported in the blood plasma of all mammals. It is an essential structural component of mammalian cell membranes...
levels, and decreased HDL levels. The condition is caused by a deficiency in apolipoprotein E
Apolipoprotein E
Apolipoprotein E is a class of apolipoprotein found in the chylomicron and IDLs that binds to a specific receptor on liver cells and peripheral cells. It is essential for the normal catabolism of triglyceride-rich lipoprotein constituents.-Function:...
that serves as a ligand
Ligand
In coordination chemistry, a ligand is an ion or molecule that binds to a central metal atom to form a coordination complex. The bonding between metal and ligand generally involves formal donation of one or more of the ligand's electron pairs. The nature of metal-ligand bonding can range from...
for chylomicron
Chylomicron
Chylomicrons are lipoprotein particles that consist of triglycerides , phospholipids , cholesterol and proteins .They transport dietary lipids from the intestines to other locations in the body...
and IDL
IDL
- General :* International Date Line, the time zone date boundary* Intermediate density lipoprotein* John F. Kennedy International Airport, from when it was named "Idlewild Airport" * International Drivers License...
receptors in the liver
Liver
The liver is a vital organ present in vertebrates and some other animals. It has a wide range of functions, including detoxification, protein synthesis, and production of biochemicals necessary for digestion...
: The normal ApoE turns into the defective ApoE2 form.
See also
- Primary hyperlipoproteinemia
- Apolipoprotein B deficiencyApolipoprotein B deficiencyApolipoprotein B deficiency is an autosomal dominant disorder resulting from a missense mutation which reduces the affinity of apoB-100 for the low-density lipoprotein receptor Apolipoprotein B deficiency (also known as "Familial defective apolipoprotein B-100") is an autosomal dominant disorder...
- List of cutaneous conditions