Intermediate Filaments and Cytoskeleton
Cytoskeleton, Part 3
Discussion on muscular dystrophies resulting from mutations in intermediate filaments (IF).
Proposed mechanism connecting genetic mutations to observed phenotypes in muscular dystrophies.
Lesson Objectives
Aim for the session:
Describe the molecular structure of intermediate filaments (IF).
Summarize the functions of intermediate filaments.
Predict how changes to intermediate monomers affect structural integrity of IF.
Intermediate Filament Structure
Composition and Characteristics:
Intermediate filaments are made up of several different, albeit related, monomers.
Examples: Vimentins, Keratins, and Lamins; the name of the monomer often corresponds to the name of the polymer itself.
Dimers consist of parallel IF monomers that align to form antiparallel tetrads.
Tetrads further associate end-to-end to form protofibrils which create a four-coiled filament as illustrated in Figure 18-50 from MCB.
Properties of Intermediate Filaments
Unique features distinguishing IF from microfilaments and microtubules:
Lack of Polarity:
Unlike microfilaments and microtubules, intermediate filaments do not exhibit polarity, thus they do not function as tracks for motor proteins.
Tensile Strength and Stability:
Among the three cytoskeletal structures (intermediate filaments, microfilaments, microtubules), IF display the highest tensile strength and stability.
IF assembly and disassembly rates are slower, enhancing their suitability for structural support, adhesion, and protection (Janmey et al., 1991).
Energy Utilization:
IF protofibrils do not bind to nucleotides such as ATP or GTP. Instead, compression and stretching rely on sidechain interactions that naturally revert to a “resting” position without energy input (Vermeire et al., 2021).
Comparative Table on Cytoskeletal Elements
Fillable comparison table to assess key properties across Microfilaments, Microtubules, and Intermediate Filaments:
Categories: Monomers, Nucleotides, Polarity, Arrangement, Stability, Strength.
Type I & II Intermediate Filaments: Keratins
Description and Role:
Keratins are primarily found in epithelial cells, comprising one acidic monomer and one basic monomer which coil together to form dimers.
The electrostatic attraction between opposite charges of the monomers leads to robust interactions.
Functions primarily in permanent structures including hair, nails, and desmosomes.
Dysfunctions involving keratin-5 or keratin-14 can lead to conditions such as epidermolysis bullosa simplex (McLean & Irvine, 2007).
Type III Intermediate Filaments
Specific Proteins and Functions:
Include Desmin, Vimentin, Glial Fibrillary Acidic Protein (GFAP), among others, crucial for maintaining structural integrity in cells under substantial deformation (e.g., muscle cells, glial cells, fibroblasts).
Certain Type III IFs like GFAP play a role in injury responses; GFAP is instrumental in forming a glial scar after spinal cord injuries, providing stability to damaged tissues but hindering regeneration (Manrique-Castano & ElAli, 2021).
Neutrophils and Vimentin Role in Cell Structure
Investigation into neutrophils that have lobed nuclei:
Vimentin’s role in determining the lobularity of neutrophil nuclei:
It plays a minimal or no role by itself in lobulation, indicating interaction with other proteins is necessary to determine the precise number of lobes.
It is not solely responsible for the lobular structure in neutrophils.
Type IV Intermediate Filaments: Neurofilaments
Functional Role and Expression:
Neurofilaments are mainly involved in stabilizing cellular structures and linking them together.
Primarily expressed in nervous tissue, though some forms are present in muscle cells.
The detection of loose neurofilaments in cerebrospinal fluid (CSF) or blood is utilized as a biomarker for neural damage (Bomont, 2021).
Type V Intermediate Filaments: Lamins
General Information and Genetic Disorders:
Lamins are crucial components of the nuclear lamina and are expressed in nearly all cell types, with expression levels varying based on cellular requirements.
They are essential for forming the basal lamina (an extracellular matrix component) between the epithelium and endothelium.
Autosomal Dominant Leukodystrophy (ADLD), a rare genetic condition, results from Lamin B1 (LMNB1) overexpression.
The irregularly shaped nuclei observed can be indicative of a thickened nuclear envelope, affecting cellular function (as seen in microscopy panels).
Identification of Lamin Disorders
Some forms of epidermolysis bullosa result from lamin dysfunctions rather than keratin issues:
Microscopy can be utilized to differentiate these conditions by exploring the structural manifestations of lamin versus keratin abnormalities in epithelial tissue (Srinivasan et al., 2018).
Conclusion of Lesson Objectives
Reinforcement of aims:
Students should be able to articulate the molecular structure of intermediate filaments.
Summarize the various functions of intermediate filaments.
Predict the consequence of alterations to intermediate monomers on the structural integrity of these filaments.