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Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.

Abstract：

:Ataxia with isolated vitamin E deficiency (AVED) is an autosomal recessive neurodegenerative disease which maps to chromosome 8q13. AVED patients have an impaired ability to incorporate alpha-tocopherol into lipoproteins secreted by the liver, a function putatively attributable to the alpha-tocopherol transfer protein (alpha-TTP). Here we report the identification of three frame-shift mutations in the alpha TTP gene. A 744delA mutation accounts for 68% of the mutant alleles in the 17 families analysed and appears to have spread in North Africa and Italy. This mutation correlates with a severe phenotype but alters only the C-terminal tenth of the protein. Two other mutations were found in single families. The finding of alpha TTP gene mutations in AVED patients substantiates the therapeutic role of vitamin E as a protective agent against neurological damage in this disease.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Ouahchi K,Arita M,Kayden H,Hentati F,Ben Hamida M,Sokol R,Arai H,Inoue K,Mandel JL,Koenig M

doi

10.1038/ng0295-141

subject

Has Abstract

pub_date

1995-02-01 00:00:00

pages

141-5

issue

2

eissn

1061-4036

issn

1546-1718

journal_volume

9

pub_type

杂志文章

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