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Biochem other:

The key functions of important apolipoproteins are as follows


ApoA-I: LCAT activation (cholesterol esterification)
ApoB48: Chylomicron assembly and secretion by the intestine
ApoB-100: LDL particle uptake by extrahepatic cells
ApoC-II: Lipoprotein lipase activation
ApoE-3 & 4: VLDL and chylomicron remnant uptake by liver cells
Releasing factors recognize the stop codons (UAA, UAGand UGA) to terminate protein synthesis. They
facilitate release of the polypeptide chain from the ribosome and dissolution of the ribosome mRNA
complex,
Pyridoxal phosphate is a necessary cofactor in the synthesis of -aminolevulinic acid (which is elevated in
cases of lead poisoning).
The breast milk content of vitamins D and K is typically insufficient to meet the nutritional needs of the
newborn Vitamin K is given parentally to infants at birth to prevent hemorrhagic disease of the newborn.
Exclusively breastfed infants may develop vitamin D deficiency if they are not exposed to adequate
sunlight. Dark skinned infants are at especially high risk because they must be exposed to sunlight for
longer periods of time to generate adequate vitamin D.
Okazaki fragments are short stretches of RNA primers plus newly synthesized DNA that account for the
discontinuous synthesis of DNA on the lagging strand during replication.
HNPCC is an autosomal dominant disease caused by abnormal nucleotide mismatch repair.
Cysteine becomes an essential amino acid in patients with homocystinuria, as the defective enzyme
cystathionine synthetase produces the substrate used by cystathionase for the endogenous production of
cysteine.
Histone H1 is located outside of the nucleosome core and helps to package nucleosomes into more compact
structures by binding and linking DNA between adjacent nucleosomes.
Fabry disease is an inherited deficiency of alpha galactosidase A that causes accumulation of the globoside
ceramide trihexoside in tissues. The earliest manifestations of Fabry disease are angiokeratomas,
hypohidrosis and acroparesthesia. Without enzyme replacement, patients typically develop progressive
renal failure.
Unlike hereditary fructose intolerance and classic galactosemia, essential fructosuria is a benign disorder
resulting from a defect or deficiency in the enzyme fructokinase.
Glucose induced decreased adenylate cyclase activity leads to low intracellular concentrations of cAMP.
Low cAMP levels in turn cause poor binding of catabolite activator protein (CAP) to the CAP-DNA
binding domain leading to decreased expression of the structural genes of the lac operon.
Streptomycin inhibits the initiation of protein synthesis by binding to and distorting the structure of the
prokaryotic 3OS ribosomal subunit.
Base excision repair is used to correct defects in single bases induced spontaneously or by exogenous
chemicals. In this process, glycosylase remove the defective base, and the corresponding sugar-phosphate
is cleaved and removed by endonuclease, followed by the action of lyase. DNA polymerase then replaces
the missing nucleotides and ligase reconnects the DNA strand.
Deletions or the addition of a number of base pairs which are nota multiple of three indicates that a frame
shift mutation has occurred. Frame shift mutations after the reading frame of the genetic code, resulting in
the formation of non-functional proteins.
Riboflavin (vitamin B2) is a precursor of the coenzymes FMN and FAD. FAD participates in tricarboxylic
acid cycle as a coenzyme of succinate dehydrogenase, which converts succinate into fumarate.
Elastins plasticity and ability to recoil upon release of tension is attributable to a unique form of desmosine
crosslinking between four different lysine residues on four different elastin chains. This crosslinking is
accomplished by the action of extra cellular lysyl hydroxylase.
The MAP-kinase signal transduction pathway includes Ras protein, a G-protein that exists in inactive
(GDP-containing) and active (GTP containing) forms. Mutated (permanently activated) Ras is associated
with the development of malianant tumors.
High-output congestive heart failure and neurological symptoms are strongly suggestive of wet beriberi
(thiamine deficiency).

Bacterial DNA polymerase I have 5 to 3 exonuclease activity, which is used to excise RNA primers. The
gaps created after RNA excision is then replaced with DNA in the 5 to 3 direction by DNA polymerase I.
Constitutive expression of the structural genes of the lac operon can occur with mutations in the gene for
the repressor protein (Lad) or with mutations to the operator region causing failure of the repressor to bind
effectively to the operator.
Trypsinogen is activated to trypsin by duodenal enteropeptidase. Trypsin is essential for protein digestion
and absorption in two ways. It degrades complex peptides to dipeptides and amino acids, and it activates
other proteases such as carboxypeptidase, elastase and chymotrypsin.
Secondary lactase deficiency can occur after viral gastroenteritis or other diseases that disturb the intestinal
epithelium. This disease causes abdominal distention flatulence and diarrhea after lactose ingestion.
The genetic code is "degenerate" meaning that there are more codons (61) than amino acids (20). Each
tRNA molecule is specific for a given amino acid. Many tRNA anticodons can bind to a few different
codons coding for the same amino acid. This is called the "wobble" phenomenon.
Bacterial mRNA can be polycistronic, meaning that one mRNA codes for several proteins. An example of
polycistronic mRNA is the bacterial lac operon, which codes for the proteins necessary for lactose
metabolism by E. coil; the transcription and translation of these bacterial proteins is regulated by a single
promoter, operator, and set of regulatory elements.
Homocysteine is converted to methionine using methylcobalamin and methyl tetrahydrofolate.
Hypoxia-induced lactic acidosis is caused by a low activity of pyruvate dehydrogenase (oxidative
phosphorylation pathway) and a high activity of lactate dehydrogenase.
PCR requires primers that are complementary to the regions of DNA flanking the segment to be amplified.
Thermostable DNA polymerase, deoxynucleotide triphosphates, and the target DNA template strand are
also necessary.

Southern blotting is a technique used to identify DNA mutations. It involves restriction endonuclease
digestion of sample DNA, gel electrophoresis, and gene identification with a radioactively labeled DNA
probe.
Primase is a DNA-dependent RNA polymerase that incorporates short RNA primers into replicating DNA.
There is one codon that signals initiation of protein synthesis (AUG), while three codons stop protein
synthesis (UAA UAG and UGA). Transfer RNA molecules (tRNA) transport amino acids to the site of
protein synthesis and ensure placement of the proper amino acid for a given mRNA codon. Each tRNA
contains a specific nucleic acid sequence that is complementary to certain mRNA codons.
Single nucleotide deletions shift the reading frame, often creating a premature stop codon or dramatically
changing the protein structure.

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