18 Questions
Which feature is common across all protein aggregation disorders?
Formation of intracellular inclusions
Which type of protein aggregation disorder is characterized by the aggregation of tau protein?
Tauopathies
Which pathological feature involves generating reactive oxygen species?
Oxidative stress
Which protein aggregation disorder is primarily associated with the deposition of amyloid fibrils?
Alzheimer's disease
Which disorder is characterized by the expansion of a CAG repeat in the genome?
Huntington's disease
Which consequence is directly triggered by protein aggregates, leading to an immune response?
Inflammation
Which type of disorder is characterized by the accumulation of α-synuclein protein?
Synucleinopathies
Which pathological feature is described by the adoption of abnormal protein conformations?
Protein misfolding
Which condition is characterized by the accumulation of Dutcher bodies?
Multiple myeloma
What stain is used to detect glycogen accumulation as bright red-purple globules?
Periodic acid-Schiff (PAS)
What is the result of PAS staining after enzymatic dissolution of glycogen?
No staining
Where is a-1 antitrypsin produced and typically accumulates in cases of deficiency?
Liver
Which dye combination would identify alpha-1 antitrypsin accumulation?
PAS (+), D-PAS (+)
What does the presence of neurofibrillary tangles and amyloid beta accumulation indicate?
Alzheimer’s disease
What does the term 'anthracose' refer to?
Carbon or coal dust accumulation
Which cells undergo glycogen accumulation in poorly controlled diabetes mellitus?
Renal tubular epithelium and cardiac myocytes
What is a common feature of both glycogen storage diseases and glycogen accumulation in poorly controlled diabetes?
Excessive intracellular deposits of glycogen
Which staining result would differentiate alpha-1 antitrypsin accumulation from glycogen in biopsies?
PAS (+); D-PAS (+)
Study Notes
Protein Aggregation Disorders
Definition
- Protein aggregation disorders: a group of diseases characterized by the accumulation of abnormally aggregated proteins within cells, leading to cellular dysfunction and death.
Types of Protein Aggregation Disorders
- Amyloidosis: characterized by the deposition of amyloid fibrils, which are composed of misfolded proteins.
- Tauopathies: characterized by the aggregation of tau protein, leading to neurodegeneration.
- Synucleinopathies: characterized by the aggregation of α-synuclein protein, leading to neurodegeneration.
- Polyglutamine diseases: characterized by the expansion of a CAG repeat, leading to the formation of toxic protein aggregates.
Pathological Features
- Intracellular inclusions: protein aggregates form inclusions within cells, which can disrupt cellular function.
- Protein misfolding: proteins adopt abnormal conformations, leading to aggregation and toxicity.
- Oxidative stress: protein aggregates can generate reactive oxygen species, contributing to cellular damage.
Examples of Protein Aggregation Disorders
- Alzheimer's disease: characterized by the aggregation of amyloid-β and tau proteins.
- Parkinson's disease: characterized by the aggregation of α-synuclein protein.
- Huntington's disease: characterized by the expansion of a CAG repeat, leading to the formation of toxic protein aggregates.
- Prion diseases: characterized by the misfolding of prion protein, leading to the formation of infectious aggregates.
Cellular Consequences
- Cellular toxicity: protein aggregates can lead to cellular dysfunction and death.
- Inflammation: protein aggregates can trigger an immune response, leading to inflammation.
- Cellular stress: protein aggregates can activate cellular stress responses, leading to further cellular dysfunction.
Protein Aggregation Disorders
Definition
- Characterized by accumulation of abnormally aggregated proteins within cells, leading to cellular dysfunction and death.
Types of Protein Aggregation Disorders
- Amyloidosis: deposition of amyloid fibrils, composed of misfolded proteins.
- Tauopathies: aggregation of tau protein, leading to neurodegeneration.
- Synucleinopathies: aggregation of α-synuclein protein, leading to neurodegeneration.
- Polyglutamine diseases: expansion of CAG repeat, leading to formation of toxic protein aggregates.
Pathological Features
- Intracellular inclusions: protein aggregates form inclusions within cells, disrupting cellular function.
- Protein misfolding: proteins adopt abnormal conformations, leading to aggregation and toxicity.
- Oxidative stress: protein aggregates generate reactive oxygen species, contributing to cellular damage.
Examples of Protein Aggregation Disorders
- Alzheimer's disease: aggregation of amyloid-β and tau proteins.
- Parkinson's disease: aggregation of α-synuclein protein.
- Huntington's disease: expansion of CAG repeat, leading to formation of toxic protein aggregates.
- Prion diseases: misfolding of prion protein, leading to formation of infectious aggregates.
Cellular Consequences
- Cellular toxicity: protein aggregates lead to cellular dysfunction and death.
- Inflammation: protein aggregates trigger an immune response, leading to inflammation.
- Cellular stress: protein aggregates activate cellular stress responses, leading to further cellular dysfunction.
Learn about protein aggregation disorders, including amyloidosis, tauopathies, and synucleinopathies, and their impact on cellular function and death.
Make Your Own Quizzes and Flashcards
Convert your notes into interactive study material.
Get started for free
