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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
13
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pubmed:dateCreated |
1998-8-6
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pubmed:abstractText |
Familial multiple system tauopathy with presenile dementia (MSTD) is a neurodegenerative disease with an abundant filamentous tau protein pathology. It belongs to the group of familial frontotemporal dementias with Parkinsonism linked to chromosome 17 (FTDP-17), a major class of inherited dementing disorders whose genetic basis is unknown. We now report a G to A transition in the intron following exon 10 of the gene for microtubule-associated protein tau in familial MSTD. The mutation is located at the 3' neighboring nucleotide of the GT splice-donor site and disrupts a predicted stem-loop structure. We also report an abnormal preponderance of soluble tau protein isoforms with four microtubule-binding repeats over isoforms with three repeats in familial MSTD. This most likely accounts for our previous finding that sarkosyl-insoluble tau protein extracted from the filamentous deposits in familial MSTD consists only of tau isoforms with four repeats. These findings reveal that a departure from the normal ratio of four-repeat to three-repeat tau isoforms leads to the formation of abnormal tau filaments. The results show that dysregulation of tau protein production can cause neurodegeneration and imply that the FTDP-17 gene is the tau gene. This work has major implications for Alzheimer's disease and other tauopathies.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/9636220-1400630,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9636220-1420178,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9636220-1530909,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/9636220-2840206,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9636220-7522386,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9636220-7534458,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9636220-7929085,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9636220-7977375,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/9636220-8318230,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/9636220-9629852,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9636220-9641683
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
0027-8424
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
23
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pubmed:volume |
95
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
7737-41
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:9636220-Humans,
pubmed-meshheading:9636220-Adenine,
pubmed-meshheading:9636220-Female,
pubmed-meshheading:9636220-Male,
pubmed-meshheading:9636220-Dementia,
pubmed-meshheading:9636220-Guanine,
pubmed-meshheading:9636220-Base Sequence,
pubmed-meshheading:9636220-Pedigree,
pubmed-meshheading:9636220-Molecular Sequence Data,
pubmed-meshheading:9636220-Nucleic Acid Conformation,
pubmed-meshheading:9636220-Sequence Analysis, DNA,
pubmed-meshheading:9636220-Chromosomes, Human, Pair 17,
pubmed-meshheading:9636220-tau Proteins,
pubmed-meshheading:9636220-Exons,
pubmed-meshheading:9636220-Introns,
pubmed-meshheading:9636220-Point Mutation
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