Carlos Shared "04 Biochem" - 51 Picmonics

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04 Biochem

Prader-Willi Syndrome
Mechanism
Maternal Imprinting
Deletion of Chromosome 15q (Paternal Deletion)
Signs And Symptoms
Hyperphagia
Truncal Obesity
Hypogonadism
Undescended Testicles (Cryptorchidism)
Intellectual Disability (Mental Retardation)
Neonatal Hypotonia (Floppy Baby)
Almond Shaped Eyes
Narrow Bifrontal Diameter
Thin Upper Lip
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3 mins
Angelman's Syndrome
Mechanism
Paternal Imprinting
Deletion of Chromosome 15q (Maternal Deletion)
Signs And Symptoms
Happy Puppet Syndrome
Inappropriate Laughter
Ataxia
Severe Intellectual Disability (Mental Retardation)
Seizure
Abnormal EEG
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2 mins
Menkes Disease
pathophysiology
Connective tissue disease
X-linked recessive
Problem with collagen cross-linking
Impared Copper Absorption and Transport
Due to defective Menkes protein (ATP7A)
symptoms
Decreased activity of Lysyl Oxidase
Brittle, Kinky Hair
Hypotonia
Growth Retardation
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McCune-Albright Syndrome
G protein Signaling Mutation
Unilateral café-au-lait spots with ragged edges
Polyostotic Fibrous Dysplasia
At Least One Endocrinopathy
Precocious puberty
Lethal if mutation occurs before fertilization (affecting all cells), but survivable in patients with mosaicism
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Hypercholesterolemia Disease
Risk Factors
Diabetes
Smoking
Family History
Hypertension
HDL < 40
Men Older than 45 Years of Age
Women Older than 55 Years of Age
Signs and Symptoms
Atheromas
Plaques in Blood Vessel Walls
Tissue Ischemia
Xanthomas
Lipemia Retinalis
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2 mins
Achondroplasia
Mechanism
Autosomal Dominant
Advanced Paternal Age
Most Common Cause of Dwarfism
Mutation of FGFR3 (Fibroblast Growth Factor Receptor 3)
Defective Endochondral Ossification
Symptoms
Delayed Motor Milestones
Shortened Limbs with Normal Axial Skeleton Size
May Develop Hydrocephalus
Symptoms of Spinal Stenosis
Normal Life Span and Fertility
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2 mins
Chromosome Components
Characteristics
DNA
Histones
Nucleosomes
Chromatin
Chromosome
Telomere
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1 min
DNA Base Pairing
Characteristics
3' End
5' End
Antiparallel Base Pairing
Complementary Strands Pair
Thymine And Adenine Pair
2 Hydrogen Bonds
Adenine and Uracil Pair in RNA
Guanine And Cytosine Pair
3 Hydrogen Bonds
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3 mins
Adenosine Deaminase Deficiency
Adenosine to Inosine
Excess ATP
Inhibition of Ribonucleotide Reductase
Prevents DNA Synthesis
Decreases B Cells and T Cells
Major cause of SCID
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1 min
Lesch-Nyhan Syndrome
X-linked Recessive
Absence of HGPRT
Hypoxanthine to IMP
Guanine to GMP
Excess uric acid
Gout
Retardation
Self-mutilation
Choreoathetosis
PRPP is increased
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2 mins
Codon Overview
Characteristics
mRNA Read In Three Nucleotide Chunks
AUG Is Start Codon
Matching tRNA Anticodon
Amino Acid Specific (To Codon)
AUG Codes For Methionine
UAA, UAG And UGA Are Termination Codons
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2 mins
DNA Replication
Characteristics
DNA Gyrase Uncoils Supercoil
Helicase Separated DNA Strand
Single-Strand Binding (SSB) Protein Keeps Strands Separated
DNA Polymerase Synthesizes New Strand
3' To 5' Reading
Primase Creates RNA Primer
Telomerase Caps DNA Ends
DNA Ligase Combines Okazaki Fragments
Okazaki Fragments On Lagging Strand
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4 mins
Eukaryotic Transcription Regulation
DNA Silencer Region
Transcription Factors bind Silencer Region
Decreased Transcription
Co-factors can deactivate factors
Co-factors can activate factors
DNA Enhancer Region
Transcription Factors bind Enhancer Region
Increased Transcription
Enhancer and Silencer regions can be far from Promoter
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2 mins
Eukaryotic Post Transcriptional Modification
Modifications in Nucleus
mRNA Splicing
Introns Cut Out
Exons spliced together
Alternate Splicing
5' Cap added
3' Poly A tail added
Transported to Cytosol
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2 mins
RNA
Characteristics
mRNA
3' Poly A Tail
5' Cap
Template For Translation
rRNA
Catalyzes Amino Acid Bonds
Component of Ribosome Enzyme
tRNA
Anticodon Region
3' Tail Bind To Amino Acid
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2 mins
Translation: Elongation & Termination
Translation: Elongation
Amino Acid Chain Created
New Amino Acid-tRNA Enters A Site
GTP and Elongation Factors Help tRNA Enter A Site
Peptide Chain Binds to New Amino Acid
Peptide Chain-tRNA Moves to P Site
Free tRNA in P Site Moves to E Site
Translation: Termination
Stop Codon at A Site Causes Termination
Release Factors Help Complex Disassociate
Complex Falls Apart
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3 mins
Translation: Initiation
Translation: Initiation
Ribosome Binds mRNA
Complex Reads 5' to 3'
AUG Start Codon
Initiation Complex Forms
GTP and Initiation Factor Bring Complex Together
Met-tRNA Binds P Site
tRNA With Bound Amino Acids Binds A Site
Amino Acid Chain Created in Elongation
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3 mins
Osteogenesis Imperfecta
Pathophysiology
Autosomal Dominant
Decreased Type I Collagen Production
Symptoms
Phenotypically Diverse
Brittle Bone Disease
Fractures from Minimal Trauma
Confused with Child Abuse
Hearing Loss
Dental Imperfections
Blue Sclera
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1 min
Ehlers-Danlos Syndrome Disease
Pathophysiology
Faulty Collagen Synthesis
Autosomal Dominant or Recessive
Various Severities
Signs and Symptoms
Hypermobile Joints
Hyperextensible Skin
Easy Bruising/Bleeding
Berry (Saccular) Aneurysm
Considerations
Beighton Criteria
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2 mins
Marfan Syndrome
Mechanism
Fibrillin-1 Mutation
Symptoms
Autosomal Dominant
Tall
Arachnodactyly
Pectus Excavatum
Hypermobile Joints
Aortic Aneurysm And Dissection
Mitral Valve Prolapse (MVP)
Subluxation of Lens (Superior)
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2 mins

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