Cellular Changes in Disease

Genetic mutations can lead to changes in cellular function and contribute to disease development
Types of mutations:
- Point mutations: single nucleotide change
- Frameshift mutations: insertion or deletion of nucleotides
- Chromosomal mutations: changes in chromosome number or structure

Epigenetic modifications can influence gene expression and contribute to disease
Types of epigenetic changes:
- DNA methylation: addition of methyl groups to DNA
- Histone modification: modification of histone proteins to alter chromatin structure
- MicroRNA regulation: regulation of gene expression by microRNAs

Disruptions in cellular signaling pathways can contribute to disease
Types of cellular signaling disruptions:
- Receptor mutations: alterations in receptor function or expression
- Signaling pathway mutations: alterations in signaling molecules or pathways
- Post-translational modifications: changes in protein function or localization

Cellular stress and damage can contribute to disease development
Types of cellular stress and damage:
- Oxidative stress: imbalance between reactive oxygen species and antioxidant defenses
- Mitochondrial dysfunction: alterations in mitochondrial function or dynamics
- ER stress: disruption of endoplasmic reticulum function

Inflammation is a response to tissue damage or infection
Cellular responses:
- Activation of immune cells (e.g. macrophages, T cells)
- Release of pro-inflammatory cytokines
- Increased blood flow and permeability

Apoptosis is a programmed cell death response to cellular stress or damage
Cellular responses:
- Activation of pro-apoptotic signals (e.g. caspases)
- Inhibition of anti-apoptotic signals (e.g. Bcl-2)
- Cellular shrinkage and membrane blebbing

Autophagy is a cellular response to stress or damage involving self-digestion of cellular components
Cellular responses:
- Formation of autophagosomes
- Fusion of autophagosomes with lysosomes
- Degradation of damaged or dysfunctional cellular components

Genetic mutations can lead to changes in cellular function and contribute to disease development
Point mutations involve a single nucleotide change
Frameshift mutations involve the insertion or deletion of nucleotides, leading to a change in the reading frame of the genetic code
Chromosomal mutations involve changes in chromosome number or structure

Epigenetic modifications can influence gene expression and contribute to disease
DNA methylation involves the addition of methyl groups to DNA, typically silencing gene expression
Histone modification involves the modification of histone proteins to alter chromatin structure and affect gene expression
MicroRNA regulation involves the regulation of gene expression by microRNAs, which bind to messenger RNA and prevent translation

Disruptions in cellular signaling pathways can contribute to disease
Receptor mutations can alter receptor function or expression, leading to changes in signaling pathways
Signaling pathway mutations can alter the function or expression of signaling molecules or pathways
Post-translational modifications can change protein function or localization, affecting signaling pathways

Cellular stress and damage can contribute to disease development
Oxidative stress involves an imbalance between reactive oxygen species and antioxidant defenses, leading to cellular damage
Mitochondrial dysfunction involves alterations in mitochondrial function or dynamics, leading to changes in energy production and cellular metabolism
ER stress involves the disruption of endoplasmic reticulum function, leading to the accumulation of misfolded proteins and cellular stress

Inflammation is a response to tissue damage or infection
Activation of immune cells, such as macrophages and T cells, occurs during inflammation
Pro-inflammatory cytokines are released during inflammation, promoting the recruitment of immune cells
Increased blood flow and permeability occur during inflammation, allowing immune cells to access affected areas

Apoptosis is a programmed cell death response to cellular stress or damage
Activation of pro-apoptotic signals, such as caspases, occurs during apoptosis
Inhibition of anti-apoptotic signals, such as Bcl-2, occurs during apoptosis
Cellular shrinkage and membrane blebbing occur during apoptosis, leading to the removal of damaged or dysfunctional cells

Autophagy is a cellular response to stress or damage involving self-digestion of cellular components
Formation of autophagosomes occurs during autophagy, allowing for the engulfment of damaged or dysfunctional cellular components
Fusion of autophagosomes with lysosomes occurs during autophagy, leading to the degradation of engulfed components
Autophagy can help to remove damaged or dysfunctional cellular components, promoting cellular survival and recovery