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
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
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
McCune-Albright Syndrome
- Gs-protein activating 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
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
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
2 mins
Chromosome Components
- Characteristics
- DNA
- Histones
- Nucleosomes
- Chromatin
- Chromosome
- Telomere
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
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
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
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
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
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
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
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
2 mins
Translation: Elongation & Termination
- Translation: Elongation
- Amino Acid Chain Is 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
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
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
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
- Brighton Criteria
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)
2 mins
