Related Experiment Video
Updated: Jul 19, 2026
06:23
Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence
Published on: January 17, 2025
Laminopathies: multiple disorders arising from defects in nuclear architecture.
Veena K Parnaik1, Kaliyaperumal Manju
1Centre for Cellular and Molecular Biology, Hyderabad, India. veenap@ccmb.res.in
Journal of Biosciences
|September 29, 2006
Summary
Lamins are crucial nuclear proteins. Mutations in lamin A cause genetic disorders and premature aging by disrupting nuclear integrity and cellular processes.
Area of Science:
- Cell Biology
- Genetics
- Biochemistry
Background:
- Lamins are major structural proteins of the cell nucleus.
- They are essential for nuclear integrity, assembly, and organizing nuclear processes like DNA replication, transcription, and repair.
- Mutations in the lamin A gene cause severe genetic disorders and premature aging syndromes.
Purpose of the Study:
- To investigate the role of lamins in nuclear integrity and cellular processes.
- To understand the tissue-specific effects of lamin mutations.
- To explore the impact of mutant lamins on DNA damage response and aging.
Main Methods:
- Analysis of nuclear structure and function in cells with lamin mutations.
- Investigation of signaling pathways involved in tissue differentiation.
- Assessment of cellular response to DNA damaging agents.
Main Results:
- Mutant lamins disrupt nuclear integrity and hinder differentiation pathways in muscle and adipose tissues.
- Cells with mutant lamins show impaired responses to DNA damaging agents.
- Certain lamin mutations exhibit dominant-negative effects, leading to nuclear defects and toxicity.
Conclusions:
- Lamins play critical, tissue-specific roles in maintaining nuclear function and cellular health.
- Lamin mutations contribute to debilitating genetic disorders and premature aging.
- Aberrant lamins may play a role in the natural aging process.
Related Concept Videos
01:22Lysosomal Hydrolases
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
00:55Laminins are the Adhesive Proteins of Basal Lamina
Laminins are heterotrimeric proteins with high molecular mass found in the extracellular matrix. Each laminin molecule is composed of three chains, viz. alpha, beta, and gamma, coded by five, four, and three paralogous genes, respectively. Laminins are categories based on the compositions of the three chains.
In humans, the five forms of alpha chains are LAMA 1, LAMA 2, LAMA 3, LAMA 4, and LAMA 5. The four forms of beta chains are LAMB 1, LAMB 2, LAMB 3, and LAMB 4. The three forms of gamma...
In humans, the five forms of alpha chains are LAMA 1, LAMA 2, LAMA 3, LAMA 4, and LAMA 5. The four forms of beta chains are LAMB 1, LAMB 2, LAMB 3, and LAMB 4. The three forms of gamma...
01:31Translation
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
01:31Translation
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
01:20Inborn Errors of Metabolism
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
01:09Cytoskeletal Linker Proteins - Plakins
Plakins are large proteins with binding domains for microtubules, microfilaments, intermediate filaments, and membrane-associated protein complexes at cell junctions. Plakin functions are evolutionarily conserved and are primarily involved in organizing the different components of the cytoskeleton by crosslinking them to each other and connecting them to the cell-matrix and cell adhesion complexes. They are also known to interact with signal transducers, serve as scaffolds for signaling...