Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein

Article Abstract:

The alpha-tocopherol-transfer protein (alpha-TTP) affects vitamin E levels in the body, and alterations in the gene may lead to abnormal function of the spinal cord and cerebellum. A 70-year-old man from an isolated Japanese island who developed slurred speech and loss of muscle coordination was found to have low vitamin E levels. Researchers performed physical exams and laboratory tests on the patient, 801 other inhabitants of the island, and 150 inhabitants of Tokyo. The patient had two copies of a mutation in the gene for alpha-TTP. The average activity of the mutated alpha-TTP was reduced to 11% of the average activity of the normal protein. None of the Tokyo residents had the mutation, but 21 of the island residents had one copy of the mutation and no symptoms. These 21 people had low levels of vitamin E when compared to other island residents without the mutation. The distribution of the mutation suggests that it came from a common ancestor.

Vitamin E deficiency

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Spinocerebellar ataxias and ataxins

Article Abstract:

Research has clarified the genetic and chemical causes of various ataxias, which are characterized by poor muscle coordination due to nerve damage. Different inherited ataxias have been linked to certain chromosomes. In some of these ataxias, the abnormal protein which may cause the disease, known as the ataxin, has been identified. Mutations in the gene for alpha-tocopherol-transfer protein (alpha-TTP) inhibit its ability to assist in the transport of vitamin E to the nervous system. This vitamin E deficiency causes ataxia. A 1995 study found that an adult patient on an isolated island with a vitamin E deficiency and ataxia had a mutation in the alpha-TTP gene. This mutation, which reduced the activity of the associated protein, was found in 21 other people from the same island. Vitamin E prevents the build-up of toxins in nerve cells. As a result, a vitamin E deficiency in these cells leads to deterioration of the nerves and ataxia.

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DNA-triplet repeats and neurologic disease

Article Abstract:

Gene mutations in neurologic diseases are associated with expanded abnormal DNA-triplet repeats in various molecular regions. Since 1991, researchers have identified the molecule-based mutations of fragile X syndrome and fragile X-E syndrome, bulbar muscular atrophy, myotonic dystrophy, Huntington's disease, spinocerebellar ataxia type 1, dentato-rubro-pallido-luysian atrophy, Machado-Joseph disease, and Friedreich's ataxia. Hundreds of GAA repeats within a region of the frataxin gene are found in Friedreich's ataxia, the most common inherited ataxia.

Physiological aspects, Gene mutations, Gene mutation, Fragile X syndrome, Friedreich's ataxia

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