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Tay-Sachs, Canavan, GM1 and Sandhoff diseases


There are 7 entries in this glossary.
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Term Definition

Depression in bipolar disorder is a mood disorder characterized by mood swings from mania (exaggerated feeling of well-being, energy, and confidence in which a person can lose touch with reality) to depression with the current or most recent episode of illness characterized by depression. For more details visit: http://www.nlm.nih.gov/medlineplus/ency/article/000927.htm

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mass spectrometry (ms/ms)

An instrumental method for identifying the chemical constitution of a substance by means of the separation of gaseous ions according to their differing mass and charge —called also mass spectroscopy.


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Metabolomics is a newly emerging field of "omics" research concerned with the comprehensive characterization of the small molecule metabolites in biological systems. It can provide an overview of the metabolic status and global biochemical events associated with a cellular or biological system. (http://metabolomicssociety.org/metabolomics)

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Missense point mutation

Missense mutation (illustration)

This type of mutation is a change in one DNA base pair that results in the substitution of one amino acid for another in the protein made by a gene.

(reposted from http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/possiblemutations)


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Mouse model

A laboratory mouse useful for medical research because it has specific characteristics that resemble a human disease or disorder. Strains of mice having natural mutations similar to human ones may serve as models of such conditions. Scientists can also create mouse models by transferring new genes into mice or by inactivating certain existing genes in them. Definition from: National Human Genome Research Institute (http://www.genome.gov/glossary.cfm)

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A change in the sequence of DNA. Many mutations are "silent" and do not cause disease. When mutations occur in genes and disrupt the production of a functional protein, they may lead to genetic disease.

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Is the white matter coating our nerves, enabling them to conduct impulses between the brain and other parts of the body. It consists of a layer of proteins packed between two layers of lipids. Myelin is produced by specialized cells: oligodendrocytes in the central nervous system, and Schwann cells in the peripheral nervous system. Myelin sheaths wrap themselves around axons, the threadlike extensions of neurons that make up nerve fibers. Each oligodendrocyte can myelinate several axons.

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Synonyms - Fatty layer