Genetics Block 3

What are the normal plasma levels of phenylalanine?
What are the levels in phenylketonuria?

Tetrahydrobiopterin is used by what enzymes?

Denovo synthesis of BH4 occurs from what molecule?

Classic PKU is caused by what mutation?

Smoking oxidizes what a.a in the active site of alpha 1 antitrypsin?

Why would a pt with PKU present with albinism?

What risk could high levels of phenylalanine pose to a fetus?

Alkaptonuria is caused by what deficiency?

What happens in Alkaptonuria?

What two conditions present with a cherry red macula?

Dysostosis multiplex?

Macrophages with crinkled paper tissue appearance result in what disease?

Prostoglandins, leukotrienes and thromboxanes are all derived from what fatty acid?

Homocystonuria deficiency?

Which condition's symptoms resemble that of Marfan's?

Supplementation of vitamins in Homocystonuria is done for what purpose?

Whats deficient if Maple syrup disease?

What a.a are not broken down in Maple Syrup Disease?

Which condition is "thiamine responsive"?

Lesch-Nyhan syndrome is caused by a deficiency of what enzyme?

What is produced in excess in Lesch-Nyhan Syndrome?

Alpha 1 antitrypsin belongs to what family of protease inhibitors?

A deficiency of Alpha 1 antitrypsin causes what?

Whats an example of an ecogenetic disorder?

Alpha 1 antitrypsin causes damage in what two organs?

Nicotine oxidizes what a.a in the alpha 1 antitrypsin?

Acute intermittent porphyria is caused by a deficiency of what enzyme?

Why would events that induce cytochrome p 450 precipitate symptoms of acute inter

Xanthoma

Atheroma

What is the cause of Hyperlipoproteinemia Type IIa?

Beta lipoprotein is what?

Alpha lipoprotein is ?

What makes up LDL?

What is the function of VLDL?

B-100 is present on what FA molecule?

B-48 is a marker on what ?

Causes of HyperLipoproteinemia?

Hypercholesterolemia results from what?

Type I Hyperchylomicronemia results from what?
What accumulates?

Type IV hypertriglyceridemia results from what?
What accumulates?

Abeta lipoproteinemia results in what?

Gene mutations that cause Hyperlipoproteinemia?

What is the function of ARH protein?

What is a cofactor for lipoprotein lipase?

What enzyme catalyzes the esterification of cholesterol in HDL?

What enzyme degrades TAG's in Chylomicrons an VLDL?

LDL is also called?

A gain of mutation in the PCSK9 protease Gene results in what?

VLDL obtains Apo-c -II and Apo-E from what lipoprotein?

Transposition is responsible for what cholesterol disorder?

Pre beta lipoprotein is what?

Apo-B48 is needed for what?

Chylomicrons acquire what from HDL?

Carbon,1 ,2 and 3 carry what kinds of FA?

What happens to glycerol after lipoprotein lipase creates in from the Chylomicron?

What happens to chylomicron remnant?

What lipoproteins are translated in intestinal cells and liver?

Persistent chylomicrons in the blood suggest what?

HTGL removes what?

What is the problem in Niemann-Pick C?

What does HDL do?

What enzyme is used to trap cholesterol as cholesterol esters?

HDL uses what receptor on the liver?

HDL carries what cofactor that activates LCAT?

What is exchanged between HDL and VLDL

A1 does what in HDL

Cholesterol + macrophages make up what?

HMG coA reductase transforms HMG coA to what?

What is the purpose of NO in BV?

Alu transposition may be responsible for what genetic diseases?

What type of collagen is defective in Osteogenesis imperfecta?

What is the mutation in Osteogenesis Imperfecta?

Type I of Osteogenesis Imperfecta is caused by what?

Prenatal diagnosis of Osteogenesis Imperfecta is accomplished how?

Whats responsible for Trinucleotide repeat expansions?

Hypermutation of 5' UTR and promoter is responsible for which Trinucleotide repeat expansion disease?

In what disease is the trinucleotide repeat predisposes the individual for earlier onset of disease?

What complexes in the ETC need iron?

Severity and age of onset correlated with repeat number is characteristic of what Group of diseases?

Myotonic Dystrophy type 2 is caused by what?

Example of a pleitropy disease?

What organ prefers ketone bodies?

The carbon skeleton left after deamination is used for what?

Glucogenic a.a should contribute what?

What a.a are purely ketogenic?

What is a bidirectional shuttle?

Why is ammonia present in urine

What a.a form glutamate via deamination?

What makes up Glutathione

2 amino transporters in the blood?

2 amino groups in urea come from where?

What a.a is involved in the formation of glycosidic bond of glycoproteins?

If folic acid is deficient what may be excreted in urine?

Folic acid is involved in what?

Histamine is formed from what a.a?

Decarboxylation uses what coenzyme?

What gives rise to NO?

Creatinine present in plasma may suggest what?

Glycine is used for what?

What is caused by deficiency of glycine cleavage complex?

What is the endogenous source of oxalate in the body?

What are the 2 sulfur containing amino acids?

What is the only reaction where all Pi from ATP are liberated?

Homocytynuria is caused by what?

What membrane phospholipid gives rise to arachidonic acid?

PAPS gets its sulfate from where?

How are small amounts of cyanide detoxified?

Classical homocystynuria symptoms?

Elevated homocysteine in pregnant women are correlated with risk of what?

What is used for one carbon transfer?

Deficiency in Maple syrup Disease?

Which disease is "thiamine responsive"

Most hereditary enzymatic deficiencies are inherited in what fashion?

Musty odor is characteristic of what disorder?

Albinism is inherited how?

Alkaptonuria is caused by?

Proteins rich in what amino acids are degraded rapidly?

HCL activates what enzyme?

a.a enter cells via what transporter?

Endopeptidase activates what?

What creates a Na +gradient in the intestinal cell?

What are the only a.a that are not metabolized by liver?

What are the 2 transporters in the kidney and intestine?

Cystinuria

Hartnup disorder symptoms?
caused by?

Transfer of an amino group from an a.a to an alpha keto glutarate is called?

What are the only 2 a.a that do not go thru transamination?

All transaminases require what vitamin?

What enzyme produces free ammonium?

What activates glutamate dehydrogenase?

How is ammonia transported to the liver?

What is the precursor of N in the Urea cycle?

Ornithine transcarbomylase deficiency?

HOw much mutant mtDNA need to be present to cause disease from deletions?

Mitchondrial mutations affect what systems?

What is the most common mtDNA mutation

Leber's Hereditary Optic Neuropathy symptoms

Alzheimers disease onset is in what age group?

APP?

APO e?

What carries APO E?

Deposits of sticky peptides cause what disease?

Tau protein is implicated in what disease?

Tau protein in Alzeimers is in what state?

beta APP is cut wrong by what protease

Sticky APP are found in what condition which results in plaques?

Cystinuria and cause what?

Cystinuria is caused by malabsorption of what a.a?

Diamino basic a.a malabsorption cause what condition?

Cystynosis cause

Which a.a gives rise directly to ketone body?

Maple syrup disease is caused by?

Symptom of Maple syrup disease?

5 factors of dehydrogenases?

What enzyme converts pheneylalanine to tyrosine

Deficiency of phenylalanine hydroxylase or tetrahydrobiopterin causes what disease?

All transaminases require what coenzyme?

Rate determining enzyme is ketone body synthesis?

Vitamin C is needed for what?

What cells are present in the adrenal medulla?

What enzyme present in maloncytes converts tyrosine to DOPA?

Pheomelanin is what color?

Phenylketonuria is caused by what?

Reduction of dihydrobiopterin to tetrahydrobiopterin needs what?

Presence of what product in urine causes phenylketonuria

Disorder of aromatic a.a metabolism causes what ?

Why does urine turn yellow?

Tyrosinemia is caused by?

Albinism is caused by?

Deficiency of what enzyme causes Albinism?

Transamination of alanine produces what?

Pyridoxine phosphate is needed for what product of tryptophan metablism?

Xanthurenic acid accumulates in what condition

Decarboxylation of a.a uses what a.a?

What keeps tetrahydrobiopterin in reduced state?

Argentaffinoma is a cancer of what?
what does it produce?

What product is made in Argentaffinoma?

What produces NE?
Dopamine
Serotonin
Ach
Gaba

Transporter defect of neutral amino acid..tryptophan causes what disease?

How is codeine activated?
Thru what mechanism?

Camptothecin?

Rifampin

Deficiency of NADPH Oxidase causes what?

Heparin blocks the synthesis of what factors?

Heme is degraded by what system?

If biliverdin reductase is absent what accumulates?

How is bilirubin transported?

What accepts the bilirubin from albumin in the hepatocyte?

How do hepatocytes make bilirubin polar?

What bacterial enzyme cleaves bilirubin to urobilinogen?

Stercobilinogen is also known as?

Normal product of Heme catabolism?

Causes for prehepatic Jaundice?

What is increased in hemolytic jaundice?

Urinary Urobilinogen is increased or decreased in hemolytic jaundice?

What is the deficiency in Gilbert's syndrome?

Phenobarbital

ALA synthase is used for what?
UDP glucuronyl transferase is used for what?

Anticipation

Mechanism for Tandem repeats?

All tandem repeat diseases are maternally repeated except?

WHich tandem repeat disease is caused by tetra repeat?

Where is the tandem repeat in
Huntington
Friedrich ataxia
Myotonic dystrophy
Fragile x

Mutation in intron of 5' UTR causes what?

What is the hallmark of Huntington

Consaguinity plays a role in which disease?

Cystic Fibrosis is on what gene?

Mutation in Cystic Fibrosis?

Bilateral absence of vas deferens is seen in what disease?

Meconium Ileus is see in what disease?

The CFTR channel has how many domains?

The CFTR genotype is a good predictor of the exocrine function but not of pulmonary function

What disease is Semi dominant?

Type IIa hypercholesterolemia is caused by?

What are the 4 causes for Type IIA

Hypercholesterolemia is located on what gene?

Gain of function of what produces Type II a Hypercholesterolemia?

What mutation in PCSK9 causes lower cholesterol levels?

Which scavenger receptor takes up oxidized LDL in macrophages?

What enzyme is elevated in DMD?

Why would a female have DMD?

Osteogenesis imperfecta affects which collagen?

What is the repeating unit in collage?

What are the 2 types of Osteogenesis Imperfecta?

WhAT Are the 3 proteins in which a mutation may cause Alzeimers?

What kind of plaques are seen in alzeimers?

Which secratase produces a neurotoxic amyloid precursor protein?

People with what trisome are predisposed to Alzeimers disease?

What is the relationship betwee APO E and Alzeimers?

Phytanic acid accumulates in what disease?

Kayser Fleisher ring is seen in what disease?

What is Menkes disease?

Elfin like facies and great interpersonal skills are present in what disease?

A third copy of what in pt with downsyndrome predisposes them to Alzeihmers?

The FMR-1 gene is found in what condition?

What is added to cholic acid and chenodeoxycholic acids to make them salts?

What is the rate determining step in the formation of cholic acid?

What inhibits cholesterol 7 alpha hydroxylase?
What promotes its actions?

Ornithine transcarbamylase results in high levels of what?
When does it usually present?

Squalene monooxygenase is involved in what?

Wolman disease is caused by?

Niemann-Pick C is caused by?

What protein is deficient in Limb Girdle Dystrophy?

What proteins are deficient in Congenital Muscular dystrophy?

What protein is deficient in Emery-Dreyfus muscular dystrophy?

What are the autosomal recessive muscular dystrophies?

What is heteroplasmy?

What are the 3 types of mutations in mtDNA?

What kind of mutation causes Pearson and Kearns syndrome?

MELAS is caused by a mutation where?

Chronic progressive external Opthalmoplegia is caused by what type of mutation?