Biochem Hepato:

Carnitine deficiency impairs fatty acid transport into mitochondria, restricting ketone body production
Homeobox genes code for DNA-binding transcription factors that play an important role in morphogenesis.
The polyadenylation signal sequence at the 3' end of the mRNA transcript is responsible for addition of the
poly A tail. The poly A tail is not transcribed from DNA but rather added as a posttranscriptional
modification downstream of a consensus sequence (usually "AAUAAA"). This tail protects the mRNA
from degradation within the cytoplasm after it exits the nucleus.

The oxidative reactions of HMP shunt are necessary for anabolic reactions that utilize NADPH as an
electron donor. These reactions include cholesterol and fatty acid synthesis. Also, NADPH produced via
the HMP shunt is the only method of reducing glutathione (and thus repairing oxidative damage)
available to red blood cells.

-Ketoglutarate dehydrogenase requires thiamine as a cofactor. Administration of glucose to thiamine

deficient patients, such as alcoholics, will result in Wernicke encephalopathy due to increased thiamine
demand.
Hypoglycem ia after prolonged fasting with inappropriately Iow levels of ketone bodies suggests
impaired Oxidation. Acyl CoA dehydrogenase catalyzes the first step in the beta-oxidation pathway.
Biochemical processes for cellular metabolism occur in distinct locations within cells. For example boxidation of fatly acids ketogenesis, the citric acid cycle, parts of the urea cycle (carbamoyl phosphate
synthetase 1 and ornithine transcarbamoylase) and pyruvate carboxylation all occur exclusively within
the mitochondria. All of the reactions of the pentose phosphate pathway occur in the cytoplasm.
Galactitol accumulates in lens of patients with galactosemia and causes osmotic damage leading to
cataract formation. Galactitol is formed from excess circulating galactose in galactosemia by aldose
reductase.
Multiple origins of replication make eukaryotic DNA synthesis quick and effective despite the large size
of the genome compared to that of prokaryotic organisms.

Acetyl-CoA is an important allosteric activator of gluconeogenesis that acts by increasing the activity of
pyruvate carboxylase.
Ervthrocvtes and other cells lacking mitochondria cannot utilize ketone bodies for energy. While
hepatocvtes contain mitochondria, they also cannot utilize ketone bodies because they lack the enzyme
succinyl CoA-acetoacetate and CoA transferase (thiophorase).

The Southern, Western, Northern, and Southwestern blot procedures are techniques used to analyze and
identify DNA fragments, proteins, mRNA, and DNA bound proteins, respectively. The best method for
determining whether a gene is being expressed is to analyze for the presence of its mRNA using a Northern
blot. In the case described above Northern blot analysis of each of the cell culture samples can determine if
mRNA corresponding to the gene of interest is being transcribed. Northern blots detect target mRNA in a
sample to assess gene expression
N-myc is a transcription factor that is by definition capable of binding DNA. Because of its DNA-binding
Ability, N-myc can be detected by DNA probes.
Hypoglycemia in the setting of a high intracellular ratio of NADH to NAD+ can occur when a metabolic
fuel other than glucose (e.g. ethanol) is present. Hepatic ethanol catabolism produces NADH and inhibits
gluconeogenesis.
Enhancers/repressors may be located anywhere upstream, downstream or even within the transcribed gene.
In contrast promoter regions are typically located 25 or 70 bases upstream from their associated genes.
Classic galactosemia results from deficiency of galactose -1-phosphate uridyl transferase; this defect is the
most common cause of galactosemia. The clinical features of this illness include vomiting lethargy and
failure to thrive soon after breastfeeding is begun.
The prokarvotic 16S rRNA sequence is found in the 30S ribosomal subunit. The 16S rRNA contains a
sequence complementary to the Shine Dalgamo sequence on mRNA. Binding of these two complementary
sequences is necessary for initiation of protein translation.
The biologically active form of pantothenic acid is coenzyme A, which binds with oxaloacetate in the first
step of the TCA (Krebs) cycle to form citrate and then succinyl-CoA.
Only the liver can utilize the glycerol produced by the degradation of triglycerides by hormone sensitive
lipase. In the liver glycerol is used for triacylglycerol synthesis, gluconeogenesis and as an intermediate in
glycolysis. (Adipose tissue synthesizes the glycerol phosphate needed for triacylglycerol synthesis from
dihydroxyacetone phosphate (DHAP))
Debranching enzyme deficiency (Glycogen storage disease type 3, Con disease) leads to incomplete
glycogen degradation. Alpha-1, 6-gluccsidic branch points cannot be degraded, so small chain dextrin-like
material accumulates within the cytosol of hepatocytes. Patients with this illness present with
hypoglycemia, hypertriglyceridemia, lactic acidosis, and hepatomegaly, but these findings are not specific
for debrancher enzyme deficiency.
Southwestern blottin is used to detect DNA-binding proteins, such as transcription factors, nucleases,
histones, etc.
The TATA box is a promoter region that binds transcription factors and RNA polymerase II during the
initiation of transcription. It is located approximately 25 bases upstream from the beginning of the coding
region.
Lipoic acid is a cofactor for several mitochondrial enzymes: PDH (deficiency results in lactic acidosis), aketoglutarate DH and branched-chain ketoacid DH (deficiency results in maple syrup urine disease).
Aldolase B participates in fructose metabolism, and a deficiency of this enzyme results in fructose
intolerance. This disease is characterized by hypoglycemia following fructose ingestion due to phosphate
trapping in fructose-6- phosphate. Fructose and sucrose, a glucose-fructose disaccharide, should be
removed from diet.
Acid maltase (alpha glucosidase) deficiency leads to glycogen accumulation within lysosomal vesicles.
Clinical manifestations of this disease include hepatomegaly, cardiomegaly, macroglossia, hypotonia and
mental retardation in its most severe form.