PART 9 Flashcards by Bspharm 2025

▪️RNA - Directed- Protein synthesis
▪️Occurs in the ribosome
▪️language of nucleic acids to the language of proteins
▪️The amino acid-nucleotide pairing is done by using the genetic code (the codons being in the mRNA)
▪️deliver amino acids upon matching its anticodon with the corresponding codon

Translation

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Rules of the Genetic Code

▪️ conserve throughout evolution ( All organism use the same codon)

Universal

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Rules of the Genetic Code

▪️ may have more than one triplet bases coding for a given amino acid. (i.e, iaa = many codons)

Degenerate / Redundant

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Rules of the Genetic Code

▪️ Each codon specifies 1 a.a ( i.e i codon = 1a.a)

Unambiguous/ Specificity

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Rules of the Genetic Code

▪️ read at a fix starting point - as a continuous sequence of bases (read 3 at a time)

Non- overlapping & Commaless

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(AUG)- Start codon

Met

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UGG

Tryptophan (Trp)

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Formation of the initiation complex (ribosome assembly)

A - aminoacyl site
P - peptidyl site
E - exit site

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Binding site in prokaryotes

Shine-Dalgarno Sequence

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Binding site in Eukaryotes

Kozak Sequence

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Post-translational Modifications

▪️ by trimming away or residue modification

Modification

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Post-translational Modifications

▪️ for wrong sequence or wrongly folded proteins (which are usually nonfunctional)

Degradation

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Post-translational Modifications

▪️ to the appropriate site with the help of endoplasmic reticula or Golgi apparatuses

Targeting

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▪️Changes in the base sequence of DNA and are often responsible for causing disease
▪️Can be classified in multiple ways. In most cases, they can be classified by how much of the DNA it affects (large or small) followed by the mechanism (ex. replacement, insertion, or deletion)

Mutation

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▪️Affects major chunks of the chromosome, involving as far as millions of bases
▪️Humans have gains of chromosomes by default

Large-scale

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MUTATION MECHANISMS

▪️loss of a big part or entire chromosome
▪️ex. Cri du chat (chromosome 5)

Deletion

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MUTATION MECHANISMS

▪️ no loss, but sequence gets flipped

Inversion

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MUTATION MECHANISMS

▪️ from one chromosome to another

Translocation

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MUTATION MECHANISMS

▪️pairs don’t separate
▪️ex. Turner syndrome (sex monosomy X)

Nondisjunction

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MUTATION MECHANISMS

▪️ extra copy (2) includes trisomies (3)

Duplication

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Trisomy 21

Down syndrome

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Trisomy 18

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Edward syndrome

Trisomy 13

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Patau syndrome

Sex-related trisomy

▪️ XXY

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Klinefelter’s syndrome

Sex-related trisomy ▪️ XYY

Jacob's

Sex-related trisomy ▪️ XOX

Superfemales

▪️ Only affects one or few nucleotides

Small-scale

pyr to pyr, pur to pur

Transition

pyr to pur

Transversion

Mutations can also be classified based on what happens ▪️ does not affect amino acid

Silent

Mutations can also be classified based on what happens ▪️ changes the coded amino acid

Missense

Mutations can also be classified based on what happens ▪️ results to a stop codon

Nonsense

GLYCOGEN STORAGE DISEASE ▪️ Glycogen synthase deficiency

GLYCOGEN STORAGE DISEASE ▪️ Glucose-6-phosphatase deficiency

Ia (Von Gierke)

GLYCOGEN STORAGE DISEASE ▪️ Glu-6-phosphate ER transporter deficiency

GLYCOGEN STORAGE DISEASE ▪️ Lysosomal a-1,4 & 1,6 glucosidase deficiency

II (Pompe’s)

GLYCOGEN STORAGE DISEASE ▪️ Liver & muscle debranching enzyme deficiency

IIIa (Forbes-Cori)

GLYCOGEN STORAGE DISEASE ▪️ Liver debranching enzyme deficiency

IIIb (Limit dextrinosis)

GLYCOGEN STORAGE DISEASE ▪️ Branching enzyme deficiency

IV (Andersen/ Amylopectinosis)

GLYCOGEN STORAGE DISEASE ▪️ Muscle phosphorylase deficiency

V (McArdle

GLYCOGEN STORAGE DISEASE ▪️ Liver phosphorylase deficiency

VI (Hers)

GLYCOGEN STORAGE DISEASE ▪️ Muscle & erythrocyte PFK-1 deficiency

VII (Tarui)

GLYCOGEN STORAGE DISEASE ▪️ Liver phosphorylase kinase deficiency

VIII

GLYCOGEN STORAGE DISEASE ▪️ Liver and muscle phosphorylase kinase deficiency

GLYCOGEN STORAGE DISEASE ▪️ GLUT-2 deficiency

XI (Fanconi-Bickel syndrome)

▪️Sum of all chemical processes in the body ▪️Broken down into "pathways" ▪️A pathway usually has an irreversible step(s) to direct a pathway to its goal/end product ▪️The term "rate-limiting" is reserved for the irreversible step so slow it dictates if the pathway starts or stops

METABOLISM AND PATHWAYS

most common energy currency

ATP

2.5 ATP

NADH ("reduced NAD")

1.5 ATP

FADH2 ("reduced FAD")

1 ATP

Other triphosphates (ex. GTP)

▪️builds up of macromolecules- uses energy ▪️involves synthesis ( usually reductive) ▪️Energy consuming ▪️e.g. protein systhesis, glycogenesis

Anabolic

▪️breaks down of macromolecules- produces energy ▪️Usually oxidative ▪️Energy yielding ▪️E.g. glycolisis, Beta- Oxidation

Catabolic

▪️can be anabolic or Catabolic ▪️e.g Kreb’s cycle

Amphibolic

▪️Breakdown of glucose to two molecules of pyruvate ▪️Consists of two phases: Energy investment (steps 1-5) and energy payoff (steps 6-10)

Glycolysis

PART 9 Flashcards

(54 cards)