Plectin Mutations and Associated Diseases

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18 Questions

What is the function of the intermediate filaments in the nuclear lamina?

Providing attachment sites for chromatin

What is the consequence of defects in a nuclear lamin?

Impaired cell division and increased cell death

What is the composition of the nuclear lamina?

A square lattice of intermediate filaments composed of lamins

What is the effect of plectin mutations on skin and muscle?

It causes features of epidermolysis bullosa simplex and muscular dystrophy

What is the characteristic of intermediate filaments in cells treated with concentrated salt solutions?

They can stay intact and resist disassembly

What is the location of intermediate filaments in cells?

In both the cytoplasm and the nucleus

What type of intermediate filament is found in nerve cells?

Neurofilaments

What is the main function of microtubules in a cell?

To act as a track for the movement of vesicles and organelles

What type of intermediate filament is associated with the nuclear envelope?

Lamins

What is the characteristic of microtubules that allows them to rapidly change their location in the cell?

Their ability to polymerize and depolymerize

What is the function of plectin in intermediate filament networks?

To cross-link intermediate filaments together

What is the term for the process of premature aging caused by mutations in a nuclear protein?

Progeria

What is the primary function of intermediate filaments in cells?

To provide mechanical stress resistance

What would occur if a sheet of epithelial cells were stretched by external forces in the absence of intermediate filaments?

The cells would experience a major deformation and possibly rupture

What protein aids in the bundling of intermediate filaments and links them to other cytoskeletal protein networks?

Plectin

Which of the following is NOT a type of cytoskeletal protein network?

Golgi apparatus

What is the name of the disease caused by a mutant form of keratin that makes skin more prone to blistering?

Epidermolysis bullosa simplex

What is the role of intermediate filaments in maintaining cell shape and structure?

They resist mechanical stress and maintain cell shape

This quiz covers the effects of mutations in human plectin genes, including features of epidermolysis bullosa simplex, muscular dystrophy, and neurodegeneration. It also explores the consequences of plectin gene deficiency in mice and the role of intermediate filaments in the nuclear envelope.

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