Alper DUNKI
Cellular and Molecular Biology, Immunology and Genetics Terminology
Spot Knowledge
The nucleus stores DNA; nucleolus produces ribosomes. Defects cause syndromes with skeletal anomalies.
Mitochondria are key for ATP; dysfunction leads to neuromuscular and metabolic disease.
Lysosomes degrade waste; defects → storage disorders (e.g., Tay-Sachs).
ECM (collagen, GAGs, proteoglycans) provides structural support and lubrication.
Stem cells: mesenchymal stem cells can differentiate into osteoblasts and chondrocytes.
Cellular Structures and Functions
Nucleus & Nucleolus: Store genetic material, produce ribosomes. Syndromes: Bloom, Treacher Collins, Rothmund-Thomson.
Cytoplasm: Site of metabolism.
Mitochondria: ATP production, signaling. Mutations → neuromuscular disease, diabetes, deafness.
Golgi apparatus: Packages proteins/hormones; linked to secretion disorders.
Lysosomes: Waste degradation; lysosomal storage diseases (Tay-Sachs, Gaucher).
Endoplasmic Reticulum: Protein & lipid synthesis.
Ribosomes: Protein synthesis; ribosomopathies.
.Cytoskeleton: Shape, motility; defects → cardiomyopathy, genetic deafness1. Cellular and Molecular Biolo…
Extracellular Matrix (ECM)
Provides scaffolding for tissues.
Components: Collagen (main structural protein), GAGs, fibronectin, laminin.
.GAGs + proteoglycans → cushioning, lubrication1. Cellular and Molecular Biolo…
Intracellular Signal Transduction
Mediated via receptors: GPCRs, ion channels, tyrosine kinases.
Second messengers: cAMP, Ca²⁺.
.Control gene expression and cellular responses1. Cellular and Molecular Biolo…
DNA & Genetics
DNA: Double-stranded, stores genetic info.
Genes: Exons (coding) + introns (non-coding).
Promoters/Enhancers: Regulate expression.
Mutations: Basis of inherited disease (Down, DiGeorge).
Mitochondrial DNA: Maternal inheritance.
.SNPs & Epigenetics: Variation and environment-driven expression1. Cellular and Molecular Biolo…
RNA Biology
mRNA: Protein coding.
miRNA: Gene regulation.
.rRNA: Part of ribosome, diagnostic use in bacteria1. Cellular and Molecular Biolo…
Gene Expression & Protein Synthesis
Transcription: DNA → RNA.
Translation: RNA → protein.
Transcription factors (RUNX2, SOX9, PPAR-γ) regulate bone and cartilage differentiation.
.Post-translational modifications: glycosylation, phosphorylation1. Cellular and Molecular Biolo…
Molecular Biology & Protein Techniques
FISH, CGH: Detect chromosomal abnormalities.
Flow cytometry: Cell surface antigens.
PCR/RT-PCR: Gene amplification.
Blotting (Northern/Southern): Nucleic acid analysis.
Microarray: Gene expression profiles.
Recombinant DNA: Produces proteins (e.g., BMP-2, IL-6 inhibitors).
.Immunohistochemistry, ELISA, Western blot: Protein detection/quantification1. Cellular and Molecular Biolo…
Immunology
Innate immunity: Fast, nonspecific.
Adaptive immunity: Antigen-specific, memory formation.
Humoral: B-cell mediated.
Cellular: T-cell mediated.
.Inflammation in connective tissue → osteoclastogenesis → bone resorption1. Cellular and Molecular Biolo…
Stem Cells
Adult stem cells: Self-renewal & tissue repair.
Mesenchymal stem cells: Differentiate into bone, cartilage.
Embryonic stem cells: Pluripotent, rejection risk.
.Induced pluripotent stem cells: Reprogrammed somatic cells with pluripotency1. Cellular and Molecular Biolo…
Organelle Function Clinical Relevance
Nucleus Stores DNA Cancer karyotyping, mitotic abnormalities Nucleolus Ribosome synthesis Bloom, Treacher Collins, Rothmund-Thomson
Mitochondria ATP production Neuromuscular disease, diabetes, deafness Lysosome Waste degradation Tay-Sachs, Gaucher, Niemann-Pick
Golgi Apparatus Protein packaging Secretion disorders
Endoplasmic Reticulum Protein/lipid synthesis Liver & muscle diseases Ribosomes Protein synthesis Ribosomopathies, macrocytic anemia Cytoskeleton Shape & motility Cardiomyopathy, hearing loss
References
Valls AF, et al. Nat Rev Mol Cell Biol. 2022.
Krajnik B, et al. Front Cell Dev Biol. 2020.
Levoin N, et al. Front Cell Dev Biol. 2020.
.Meng F, et al. Trends Cell Biol. 20241. Cellular and Molecular Biolo…