AA Flashcards by Janah Belaguin

Enzymes defects that inhibits the body’s ability to metabolize certain amino acids

PKU
Tyrosinemia	
Alkaptonuria
MSUD
Isovaleric Acidemia
Homocystinuria
Citrullinemia
Arginosuccinic Aciduria
Cystinuria

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Phenylketonuria
Absence of _
_ of urine

phenylalanine hydroxylase (PAH)
Musty odor

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Laboratory Tests Phen

Guthrie test

Microfluorometric assay

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Semi quantitative bacterial inhibition assay

Uses phenylalanine to facilitate bacterial growth (____ and___).

Guthrie test

B. subtilis and β-2-thienylalanine

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Type II Tyrosinemia

↓ Tyrosine aminotransferase

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Type III Tyrosinemia

↓ 4-hydroxyphenylpyruvate dioxygenase

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Alkaptonuria
Lack of–
–

Lack of homogentisate oxidase

↑ homogentesic acid in urine

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Type I Tyrosinemia

–

↓ fumarylacetoacetate hydrolase

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Maple Syrup Urine Disease
\_\_\_
\_\_
_
-
\_\_\_odor of urine

↓ branched-chain α-ketoacid decarboxylase
↑ Isoleucine
↑ Leucine
↑ Valine

Burnt sugar

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Map Syr test

Modified Guthrie test

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Modified Guthrie test

uses branched chain ___ to facilitate bacterial growth (containing bbbbb and cvcvc).

α-ketoacid
B. subtilis
4-azaleucine

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Isovaleric Acidemia
Deficiency of vvvvvvv
vvvvvv
vvvvv odor

Deficiency of isovaleryl-CoA dehydrogenase
↑ Isovaleric acid
Sweaty feet odor

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Homocystinuria

Lack of vvvv
vvvv
vvvv

cystathionine β- synthetase
↑ Homocysteine
Methionine

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Homocystinuria test

Uses vvv to facilitate bacterial growth (containing B. subtilis and vvvv).

Modified Guthrie test

Uses methionine to facilitate bacterial growth (containing B. subtilis and L-methionine sulfoximime).

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Type I citrullinemia

Lack of vvvvv (ASAS)

Type I citrullinemia

Lack of arginonosuccinic acid synthetase (ASAS)

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Mutation of the gene that encodes for protein citrin

Type II citrullinemia

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Argininosuccinic aciduria

Lack of

argininosuccinic acid lyase (ASL)

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Defect in amino acid transport system

Inadequate reabsorption of cystine in the kidneys

Cystinuria

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Disintegration of protein to amino acids
degrades extracellular proteins
intra

Lysosomal pathway

Cytosolic pathway

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Levels of protein structure

Primary
Secondary
Tertiary
Quarternary

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Amino acids in a specific sequence

Regularly repeating structures stabilized by hydrogen bonds between the amino acids within the protein

Overall conformation (fold) of the protein molecule
Due to interaction of side chains (e.g. ionic)

Interaction of more than 1 protein molecule or subunits

Primary
Secondary
Tertiary
Quarternary

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Classification by Protein Functions 10

Enzymes 
Hormones 
Transport proteins
Immunoglobulins (antibodies)
Structural proteins
Storage proteins
Energy Source
Osmotic force
Homeostasis
Acid-Base Balance

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Contain peptide chains composed of only amino acids.

May be globular(_ _ ) or fibrous ()

Simple Proteins

May be globular (hormone, enzymes, transport) or fibrous (structural)

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Conjugated Proteins

Metalloprotein
Lipoprotein
Mucoprotein and glycoprotein
Nucleoprotein

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With higher carbohydrate - 10%-40% carbohydrate - Nucleic acids attached-

Mucoproteins or proteoglycans - Mucin Glycoproteins - Haptoglobin and α1-antitrypsin Nucleoproteins - Chromatin

Plasma Proteins 2

Albumin ``` Globulin α1-Globulins α2- Globulins β-Globulins γ-Globulins ```

Indicator of nutrition Binds thyroid hormones (_ _) Binds retinol-binding protein

Prealbumin | T3, T4

Binds bilirubin, steroids, fatty acids | Major contributor to _ _

Albumin | oncotic pressure

α1-Globulins

``` α1- Antichymotrypsin Antitrypsin Lipoprotein Fetoprotein Acid glycoprotein Inter-α-trypsin inhibitor Gc-globulin ```

α1 - Antitrypsin | and

Acute phase reactant (α1 - Acid glycoprotein ) Protease inhibitor

α1 - Fetoprotein

Principal fetal protein | ↑ spina bifida, ↓ - Down syndrome

Transport lipids (HDL)

α1 – Lipoprotein

Inhibits serine proteinases - Gc-globulin

α1 - Antichymotrypsin Inter-α-trypsin inh. - Transports Vit. D and binds actin

α2-Globulins | 3

Haptoglobins - Acute Phase reactant, Binds Hgb. Ceruloplasmin α2 - Macroglobulin

Ceruloplasmin Contains __ ↓ - _ _

Contains copper | ↓ - Wilson’s disease. Menkes synd

Inhibits protease

α2 - Macroglobulin

β-Globulins | 8

``` Pre-β-lipoprotein β-Lipoprotein Trasferrin Hemopexin β2-Microglobulin C4, C3, C1q complement Fibrinogen C-reactive protein ```

``` Transports lipids (VLDL triglyceride) Transports lipids (LDL cholesterol) ```

Pre-β-lipoprotein | β-Lipoprotein

Transport Iron,↑-IDA,↓ Hemochromatosis

Trasferrin

Acute phase reactant, Binds heme

Hemopexin

Component of HLA molecules

β2-Microglobulin

Immune response (Opsonins)

C4, C3, C1q complement

Precursor of fibrin clot

Fibrinogen

Acute phase reactants | Promotes phagocytosis

C-reactive protein

``` γ-Gamma-Globulins Immunoglobulin G Immunoglobulin A M EE ```

``` Antibodies Antibodies in secretions Antibodies in early response Antibodies (reagen, allergy) Surface antibody ```

Other Proteins 7

Myoglobin Troponin (cTn) ``` Fibronectin Fetal fibronectin (fFN) ``` Cross-Linked C-Telopeptides β-Trace Protein Cystatin C Amyloid

Cellular interaction Placental adherence to the uterus ↑ - Preterm labor and delivery

``` Fibronectin Fetal fibronectin (fFN) ```

Cardiac marker for acute coronary syndrome

Troponin (cTn)

Oxygen carrier in muscles Cardiac marker (AMI) ↑ 2-3 hrs of onset, peak at 8-12 hrs

Myoglobin

Proteolytic fragment of collagen I | Marker of bone resorption

Cross-Linked | C-Telopeptides

Syn: Prostaglandin D synthase | Marker for CSF leakage

β-Trace Protein

Cysteine proteinase inhibitor | Marker for kidney function (GFR)

Cystatin C

Fibrous protein aggregates formed from alteration of β pleated sheats ↑ Amyloidoses

Amyloid

Total Protein Abnormalities

TAG

N down up

Hepatic Damage Cirrhosis β-γ bridging Hepatitis ↑ γ-globulins

down down up Acute - Chronic -

Infections Acute - α1 , α2 globulins Chronic - ↑ α1, α2 γ, globulins

down down N

Inadequate diet Nephrotic syndrome ↑α2,β-globulins;↓γ-globulins

Down N Down

Immunodeficiency syndrome

All UP

Dehydration

Up and Up

Multiple myeloma Monoclonal & Polyclonal gammopathies

Method of Analysis Total Protein

Kjeldahl Refractometry Biuret Dye Binding

Method of Analysis Albumin and Globulin

Salt Precipitation Dye Binding (Methyl orange, HABA, BCG, BCP) Electrophoresis (Coomassie blue)

TP Reference method. Assume average ____ of 16%

Kjeldahl | nitrogen content

Measurement of refractive index due to solutes in serum

Refractometry

Formation of violet-colored chelate between VVV ions and VVVV

Biuret Cu2+ peptide bonds

Protein binds to dye and causes a spectral shift in the absorbance maximum

Dye Binding

Kjeldahl 3

Kjeldahlization Ammonia measurement-Nessler’s reaction (HgI2/KI) -Berthelot reaction

conversion of nitrogen to ammonia | Nitrogen - - NH3

Kjeldahlization – H2SO4 | Nitrogen H2SO4 NH3

Nessler’s reaction | Ammonia + Nessler’s rgt ___ --- (NH2Hg2I)

Ammonia + Nessler’s rgt Gum ghatti  Yellow solution (NH2Hg2I)

Berthelot reaction | Ammonia + alkaline hypochlorite ___ --

Na nitroprusside | Indophenol blue

``` Biuret Composition – breaks the peptide bonds – keeps copper in solution – stabilizes cupric ions ```

Cupric ions Tartrate salt Potassium iodide

Dye binding 5

``` Bromphenol blue Ponceau S Amido black 10B Lissamine green Coomassie brilliant blue ```

Globulins are precipitated | Albumin in supernatant is quantitated by biuret reaction

Salt Precipitation

Dye Binding | 4

Methyl orange HABA BCG (Bromcresol green) BCP (Bromcresol purple)

Nonspecific for Albumin

Methyl orange

HABA | Many Interferences

Many Interferences (salicylates, bilirubin)

Sensitive, Most commonly used dye

Bromcresol green

Specific, Sensitive and Precise

Bromcresol purple

Proteins separated based on electric charge densities

Electrophoresis

Electrophoresis (support media)

Cellulose acetate/agarose gel

Electrophoresis | After separation, protein fractions are immersed in acid solution then stained by dyes

(Coomassie blue) scenned in densitometer

Uses higher voltage couple with a cooling system and more concentrated buffer

Electrophoresis (High Resolution)

It is the separation of molecules which takes place in silica capillaries.

Capillary Electrophoresis

Separates proteins on the basis of pI. Uses constant power and __ or _ which contains a pH gradient. pH gradient: ___

Isoelectric Focusing (IEF) - polyacrylamide or agarose gel 3.5 to 10

AA Flashcards

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