Tiêu đề Bootcamp.com Biochemistry.pdf ✅

TABLE OF CONTENTS 1. Cell Biology 2. Lysosomal Storage Diseases 3. Connective Tissue 4. Energy Production 5. Carbohydrates 6. One-Carbon Metabolism 7. Oxidative Stress 8. Glycogen 9. Lipid Metabolism 10. Protein Metabolism Biochemistry
OUTLINE 1. Cell Trafficking A. Endoplasmic Reticulum B. Cell Trafficking to cis-Golgi C. Golgi D. Anterograde Transport from trans-Golgi E. Endocytosis 2. I-Cell Disease A. Pathophysiology B. Presentation C. Diagnostics D. Management E. Complications F. Differential Diagnoses 3. Signal Recognition Particle A. Signal Sequence and SRP B. SRP Receptor and Translocon C. Transmembrane Proteins 4. Peroxisome A. Overview B. Very-Long-Chain Fatty Acid β-Oxidation C. Branched-Chain Fatty Acid ɑ-Oxidation D. Peroxisome Synthetic Processes Biochemistry: Cell Biology 5. Ubiquitin-Proteasome system A. Overview B. Ubiquitin C. Proteasome D. Cell Cycle Regulation E. Proteasome Inhibitors 6. Cytoskeleton A. Overview B. Actin C. Intermediate Filaments D. Microtubules 7. Primary Ciliary Dyskinesia A. Pathophysiology B. Presentation C. Diagnostics D. Management 8. Sodium-Potassium Pump A. Overview B. Pump Mechanism C. Applications
Bootcamp.com Cell Trafficking Biochemistry: Cell Biology • Endoplasmic Reticulum: • Rough ER: Ribosomes, near nucleus, protein synthesis, N-linked glycosylation • Smooth ER: No ribosomes, near membrane, lipid synthesis, glucose-6-phosphatase • Vesicular Trafficking to Cis-Golgi: • COPII: Anterograde transport → Cis-Golgi • COPI: Retrograde transport → ER (endocytosis) • Golgi: • Post-translational modifications: • Modify N-oligosaccharides of Asn, add O-oligosaccharides of Ser/Thr • Sulfation of Tyr • Addition of mannose-6-phosphate for proteins destined for lysosome • I-cell disease: Failure to phosphorylate mannose residues → Inclusions • Anterograde Transport from Trans-Golgi: • Secretory vesicle to cell membrane → Exocytosis • Clathrin-mediated transport → Late endosome → Lysosome • Endocytosis: • Clathrin-mediated endocytosis → Early endosome → Late endosome • → Trans-Golgi for retrograde transport to ER (COPI-mediated) • → Lysosome for degradation
Bootcamp.com I-Cell Disease Biochemistry: Cell Biology • Pathophysiology: • Golgi normally adds mannose-6-phosphate to proteins destined for lysosome • Defect in N-acetylglucosamine-1-phosphotransferase → Failure of Golgi to phosphorylate mannose → Digestive enzymes NOT tagged for lysosome → Transport of digestive enzymes extracellularly → ↑ Lysosomal substances in serum • Buildup of cell debris inside lysosomes (inclusion bodies) • Autosomal recessive • Presentation: • Young child, developmental delay/failure to thrive • Coarse facial features, corneal clouding → blindness • Skeletal deformities/↓ Mobility, kyphoscoliosis, claw hand deformity • Hepatomegaly, gingival hyperplasia • Diagnostics: • ↓ N-acetylglucosamine-1-phosphotransferase enzyme activity • Amniotic fluid/chorionic villi (prenatal) or WBCs (postnatal) • ↑ Serum lysosomal enzymes, normal urinalysis • Inclusion bodies and vacuoles in peripheral blood lymphocytes • Management: • No cure; symptomatic treatment, nutritional support, physical therapy • Complications: • CHF, pneumonia, otitis media, atlantoaxial instability • Differential Diagnosis: • Mucopolysaccharidoses (Hurler/Hunter syndromes) → ↑ Urinary glycosaminoglycans
Bootcamp.com Signal Recognition Particle Biochemistry: Cell Biology • Signal Sequence and Signal Recognition Particle: • Signal sequence (SS): String of hydrophobic amino acids on proteins destined for ER • Export or membrane integration • SS attracts signal recognition particle (SRP) → Binds SS and stops translation • (+) Anti-SRP: Polymyositis/dermatomyositis • (+) Anti-Jo primary diagnostic target • ↑ Muscle enzymes, symmetrical proximal muscle weakness • Polymyositis: No cutaneous involvement • Dermatomyositis: Heliotrope eyelid rash, Gottron papules • SRP Receptor and Translocon: • SRP brings nascent protein/ribosome complex to ER membrane, binds SRP receptor • Ribosome passed to translocon (translocation channel), SRP detaches • SS opens translocon and binds, translocation continues, threads through as a large loop • Protein complete → SS degraded by signal peptidase → Translocon closes • Protein released into ER lumen, escorted to Golgi for vesicular trafficking • Transmembrane proteins made by changing location of SRP or adding stop sequences • Failure of SRP → Cytosolic buildup of proteins