Mediaspace scheduled maintenance: Aug 25, 2026 07:00 - 12:00 AM. During this time, videos will be temporarily unavailable. Check status updates.

Lecture

Genetic Mutations: Causes and Effects

Description

This lecture covers various genetic mutations and their effects on individuals. Topics include Down syndrome, chromosomal abnormalities, types of mutations, DNA repair mechanisms, and the role of genes in cell growth regulation and apoptosis. The instructor discusses how mutations can lead to diseases like cystic fibrosis and cancer, emphasizing the importance of understanding genetic changes in cells.

Official source

Ontological neighbourhood

Biology

Cell biology: Cancer

Related concepts (32)

Mutation

In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication (translesion synthesis).

Point mutation

A point mutation is a genetic mutation where a single nucleotide base is changed, inserted or deleted from a DNA or RNA sequence of an organism's genome. Point mutations have a variety of effects on the downstream protein product—consequences that are moderately predictable based upon the specifics of the mutation. These consequences can range from no effect (e.g. synonymous mutations) to deleterious effects (e.g. frameshift mutations), with regard to protein production, composition, and function.

Frameshift mutation

A frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels (insertions or deletions) of a number of nucleotides in a DNA sequence that is not divisible by three. Due to the triplet nature of gene expression by codons, the insertion or deletion can change the reading frame (the grouping of the codons), resulting in a completely different translation from the original. The earlier in the sequence the deletion or insertion occurs, the more altered the protein.

Cancer

Cancer is a group of diseases involving abnormal cell growth with the potential to invade or spread to other parts of the body. These contrast with benign tumors, which do not spread. Possible signs and symptoms include a lump, abnormal bleeding, prolonged cough, unexplained weight loss, and a change in bowel movements. While these symptoms may indicate cancer, they can also have other causes. Over 100 types of cancers affect humans. Tobacco use is the cause of about 22% of cancer deaths.

DNA repair

DNA repair is a collection of processes by which a cell identifies and corrects damage to the DNA molecules that encode its genome. In human cells, both normal metabolic activities and environmental factors such as radiation can cause DNA damage, resulting in tens of thousands of individual molecular lesions per cell per day. Many of these lesions cause structural damage to the DNA molecule and can alter or eliminate the cell's ability to transcribe the gene that the affected DNA encodes.

Related lectures (31)

Mutations and Cancer: The Role of P53 and HPV

Covers mutations, the role of P53 in cancer, and HPV's impact on tumorigenesis.

DNA Replication and Cancer

Explores the link between DNA replication, DNA repair mechanisms, and cancer development.

Cancer Biology: p53 and DNA Repair

Explores p53's pivotal role in cellular stability, DNA repair, and tumor suppression, emphasizing TP53 mutations and DNA double-strand break repair mechanisms.

DNA Damage and Repair

Explores DNA damage, repair mechanisms, mutation consequences, and cancer prevention through tumor suppressor genes.

Genomic Alterations in Cancer