A single base change makes a difference

In summary, there is a new paper in Science that discusses the impact of a single SNP on memory effectiveness. The Thymine base at a specific location has been found to be linked to better performance in short-term memory tasks compared to the Cystine base. This location affects the protein KIBRA. Another study by Ji et al. proposes that KIBRA, through its binding to Dendrin, plays a role in learning and memory. A mutation in KIBRA has been linked to defects in Dendrin binding and affected spatial learning and memory.
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There's a new paper in Science that investigates the effect of a single SNP (single nucleotide polymorphism) on memory usage effectiveness. People with the Thymine base in a certain locus do markedly better in task involving short-term memory than those with the Cystine base at that location. The location affects the protein KIBRA.

See this discussion by John Hawks, which has links to the original paper and some other references.

http://johnhawks.net/weblog/reviews/genetics/brain/kibra_memory_association_2006.html
 
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Here's a more recent paper proposing some molecular mechanisms for how the Kibra protein might contribute to learning and memory:

Ji et al. Kibra Modulates Learning and Memory via Binding to Dendrin. Cell Rep 26: 2064 (2019) https://www.sciencedirect.com/science/article/pii/S2211124719301342?via=ihub
Abstract:
Kibra is a synaptic scaffold protein regulating learning and memory. Alterations of Kibra-encoding gene WWC1 cause various neuronal disorders, including Alzheimer’s disease and Tourette syndrome. However, the molecular mechanism underlying Kibra’s function in neurons is poorly understood. Here we discover that Kibra, via its N-terminal WW12 tandem domains, binds to a postsynaptic density enriched protein, Dendrin, with a nanomolar dissociation constant. On the basis of the structure of Kibra WW12 in complex with Dendrin PY motifs, we developed a potent peptide inhibitor capable of specifically blocking the binding between Kibra and Dendrin in neurons. Systematic administration of the inhibitory peptide attenuated excitatory synaptic transmission, completely blocked long-term potentiation induction, and impaired spatial learning and memory. A Kibra mutation found in Tourette syndrome patients causes defects in binding to Dendrin. Thus, Kibra can modulate spatial learning and memory via binding to Dendrin.
 

What is a single base change?

A single base change refers to a mutation in which one nucleotide (adenine, guanine, cytosine, or thymine) is substituted for another in a DNA sequence. This can occur naturally through errors in DNA replication, or it can be induced by environmental factors or chemicals.

How does a single base change affect gene expression?

A single base change can have a significant impact on gene expression, as it can alter the amino acid sequence of a protein. This change can result in a protein with different properties or functions, which can affect the overall function of the gene and potentially lead to disease or other physiological changes.

What are the potential consequences of a single base change?

The consequences of a single base change can vary depending on the location and type of mutation. In some cases, it may have no effect on the individual's health or development. However, it can also lead to genetic disorders, increased susceptibility to diseases, or developmental abnormalities.

Can a single base change be corrected?

In some cases, a single base change can be corrected through DNA repair mechanisms. However, if the mutation occurs in a critical gene or cannot be repaired, it can have long-lasting effects. Researchers are also exploring techniques such as gene editing to correct single base changes and prevent genetic diseases.

How does a single base change contribute to genetic diversity?

A single base change is one of the primary mechanisms for generating genetic diversity within a species. As these mutations can occur randomly and accumulate over time, they contribute to the variation observed within a population. This diversity is essential for adaptation and survival in changing environments.

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