Last minute Flashcards
Name types of nuclear receptors
Steroid receptors- bind steroid hormones
RXR heterodimers- there is one that binds a compound and the other is RXR transcription factor. They have to be paired
Dimeric orphan receptor- don’t know their ligands
Monomeric/tethered orphan receptor- one of them is bound to DNA and the other isn’t
Name Vitamin A related nuclear receptors
Ligand for retinoic acid receptor (RAR) and retinoid x receptor (RXR), transcription factors belonging to the nuclear receptor superfamily of transcription factors
Which demographic groups have a higher prevalence for iron deficiency
non-hispanic black and Mexican-American women
Consequences of disruption of LXRa?
- Increased liver mass, decreased Tis, Increased Hepatic cholesterol,
What are the major lipids present in bile
bile acids, phospholipids (mainly phosphatidylcholines, PC), and unesterified cholesterol.
Purpose of RNA-seq
Provides sequence information; including genomic sequences that have not yet been determined
Provides information regarding the relative abundance of transcripts
Name Vitamin A related nuclear receptors
Thyroid hormones- ligands of TR receptor (a transcription factor belonging to the nuclear receptor superfamily of transcription factors).
Benefits of folate intake
Reduced risk of neural tube defects
Prevention of cardiovascular disease, especially stroke
Iodine deficiency
Primary and secondary symptoms
- Primary symptoms: Increased fetal and infant mortality, neurologic defects and mental retardation (cretinism), decreased reproductive fitness, hypothyroidism, goiter (hypertrophy of the thyroid gland)
- Secondary (thyroid related disorders): anemia, arthritis, eye enlargement and inflammation, hair loss and premature graying of hair; inflammatory bowel diseases, depression
How much iron is usually found in the human body?
• The average person contains approximately 3-4 g of iron, and about 60% of this amount is found in blood
Anemia due to iron shortage- symptoms
pale skin, tired and weakness, difficulty maintaining body temperature, shortness of breath, an inflamed tongue; diminished cognitive function; decreased immune function
What can iron excess lead to?
can lead to other disorders such as arthritis, liver disease leading to liver failure, damage to the pancreas causing diabetes, cardiac function abnormalities, impotence, abnormal skin pigmentation of the skin (making it look gray or bronze), thyroid deficiency, damage to the adrenal glands
Name 2 microminerals
Iodine
Iron
Where methylation of DNA happens
Cytosine located 5’ to a guanosine (CpG)
Another name for hydrolyzed protein
specially-formulated HYPOALLERGENIC hydrolyzed protein
siRNA vs miRNA
siRNA- exogenous double-stranded RNA; binds perfectly
miRNA- endogenous single stranded RNA; binds imperfectly
MCM6
Causes variations in LCtT persistence (gene that codes for lactase)
What is tangier disease associated with?
Deficiency in ABCA1
All cells in the body are capable of making cholesterol
all cells in the body are capable of making cholesterol
Cholesterol in food is found as __
o Cholesterol in food is found as cholesteryl ester
The most common form of autosomal dominant hypercholesterolemia (ADH) is
Familial hypercholesterolemia, mutations in the LDLR gene on chromosome 19
Mutations in Apo B cause ___
Reduced affinity of LDL to LDLR
Apo-B is a __ ligand
Apo-B is a VLDL and LDLR ligand
low levels of __ are a significant risk factor for CHD.
low levels of HDL-C are a significant risk factor for CHD.
Describe abetalipoproteinia
microsomal TG transfer protein • Patients who cannot secrete Apo-B48 into the bloodstream cannot make chylomicrons
o Low to undetectable circulating chylomicrons
• These rare patients generally have mutations in microsomal transfer protein (MTP)
o MTP allows for the combining of Apo-B48 with triglyceride for the secretion of chylomicron particles in the intestine and Apo-B-100 with triglyceride for secretion of VLDL in the liver
o When MTP is defective, no Apo-B-containing particles are present in plasma, and only HDLs are present
• Malabsorption of fats and fat-soluble vitamins (e.g. vitamin A, E)
Some clinical features of abetalipoproteinemia
• Chronic diarrhea (steatorrhea)
• Retinitis pigmentosa (poor absorption of vitamin A)
• Ataxia
• Star-shaped RBCs (acanthocytosis)
Mutations that cause abnormalstructure of APOA1 will cause
Low plasma HDL
What is APOA1?
o ApoA1 is the structural protein of HDL
Familial combined hyperlipidemia characteristics
- Increased production of VLDL Apo-B-100
- Increased triglyceride levels
- Increased CEPT activity
- Elevated LDL levels
- Low HDL levels
People who take statins complain about
Muscle aches and pains
Statins can also increase insulin resistance
anion exchange resins
• Anion exchange resins bind bile acids in the intestine; increase the conversion of liver cholesterol to bile acids, and up-regulate LDL receptors in the liver; thereby decreasing plasma LDL levels.
What is the most effective agent for increasing HDL-C now
• Niacin is the most effective agent currently available for raising HDL-C and its use has been associated with CHD risk reduction