Spectrin mutations in spinocerebellar ataxia (SCA)

Article Abstract:

BetaIII spectrins are recognized as ataxia disease genes and the latest members in the spinocerebellar ataxia (SCA) gene 'family' are constitutive neuronal genes that support alterations in cell signaling and in potassium channel function. The results have shown that the mechanical properties of neurons and their dynamics might be as important as altered [Ca.sup.2+] homeostasis, transcriptional dysregulation and impaired protein degradation in neurodegeneration conditions.

Science & research, Drugs, Cellular Protein, In-Vitro Diagnostic Substance Manufacturing, Research, Diagnosis, Cellular proteins, Homeostasis, Structure, Spinocerebellar ataxia

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How do synonymous mutations affect fitness?

Article Abstract:

The effect of synonymous mutations on fitness of humans was examined. Recent studies suggest that such mutations can disrupt splicing and interfere with miRNA binding and also suggest additional mechanisms like modification of protein abundance and modification of protein structure and activity, which may affect fitness.

Protein binding

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Dynamics mutations as digital genetic modulators of brain development, function and dysfunction

Article Abstract:

The involvement of dynamic mutations in brain disorders was analyzed with a focus on the large group caused by CAG/glutamine repeat expansions. Also the role of tandem repeats polymorphisms (TRPs) with unique digital genetic distributions, in modulating brain development and normal function was described.

Health aspects, Brain diseases, Glutamine

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