Disease Causing Mutations
Disease Causing Mutations - Related Videos
00:36
Viral Mutations
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2019
A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material for adaptive...
05:51
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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Cited by 11 •
2011
Molecular genetic strategy for finding de novo mutations causing common disorders such as autism and schizophrenia.
10:47
An Overview of Genetics and Disease
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2023
Many human diseases are associated with mutations or variations in genetic sequences. Some of these genetic variants are heritable, passed down from generation to generation, while others arise sporadically during an organism’s life and cause diseases such as cancer. Researchers are trying to identify and characterize these genetic alterations in the hopes of improving diagnosis and therapeutic options for patients.In this video, we will examine the history of genetic disease research, and...
11:57
Saccharomyces cerevisiae Models of Alzheimer's Disease to Screen Genes, Mutations, and Chemicals Affecting Amyloid Beta Production by γ-Secretase
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2025
Here, we describe a yeast system reconstituting human γ-secretase. This system allows for the identification and study of mutations affecting activity and for screening of γ-secretase inhibitors (GSIs). Utilizing the loss of function properties of familial Alzheimer's disease mutants, it is possible to screen for γ-secretase modulators (GSMs).
02:27
Mutations
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2020
Mutations are changes in the sequence of DNA. These changes can occur spontaneously during DNA replication or be induced by environmental factors. Mutations can be characterized in several ways: by whether and how they alter the amino acid sequence of the protein, by the scale of the DNA affected, and by whether they affect somatic or germline cells.Consequences of Point Mutations at the Molecular LevelMutations that affect a single nucleotide are called point mutations. When point mutations...
FAQs
A variant can interfere with RNA processing or gene regulation rather than changing the amino acid sequence directly. RNA-processing effects may alter how the initial RNA transcript is handled, while regulatory effects can change when, where, or how much gene product a cell produces. These mechanisms help explain disease effects that arise from altered gene expression or RNA use.
Their effects depend on the type and location of the DNA change and on the gene process it disrupts. A coding-sequence change may affect the resulting protein, whereas a regulatory or RNA-processing change may alter gene-product production or use. Structural changes can modify genetic organization, creating another route from genotype to phenotype.
Inherited mutations are passed through families and can be examined through family-based analysis to study relationships between genotype and phenotype. Acquired mutations arise during an individual’s lifetime and are not described as inherited family changes. Distinguishing these contexts helps frame genetic testing, risk assessment, and interpretation of a disorder’s genetic basis.
Researchers compare an individual’s genetic findings with observable disease features to identify genotype-phenotype relationships. Genetic testing, sequencing, and family-based analysis provide complementary evidence for this comparison. The resulting connection can clarify how a variant relates to a disorder, support diagnosis, and improve understanding of the molecular basis of disease.
Genetic testing and sequencing can detect relevant DNA variants, while family-based analysis examines how findings correspond with patterns among relatives. These approaches help researchers evaluate whether a genetic change may be associated with a disorder. Their results can contribute to diagnosis and risk assessment, and they can provide information used in genetic counseling.
Studying the molecular effects of these variants supports disease modeling, allowing researchers to investigate how altered gene function relates to disease. Such findings can also guide targeted therapy development and precision medicine approaches. By connecting a mutation’s molecular consequence with disease biology, research can focus treatment strategies on relevant genetic mechanisms.