Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1-2
|
| pubmed:dateCreated |
1996-12-16
|
| pubmed:abstractText |
Werner syndrome is an inherited disease with symptoms of presenescence. The primary defect site either on the protein or at the DNA level is not known, nor is it possible to identify a heterozygous phenotype. On the basis of cellular peculiarities expressed in the homozygotes-lifespan reduction of cells in culture, length of population doubling time and chromosomal instability-we searched for a 'Werner-like' phenotype in otherwise phenotypically unaffected siblings. We established primary fibroblasts from eight members of a Tyrolean family, two of whom had been diagnosed as typical Werner syndrome, as well as from unrelated healthy young and old volunteers. Determination of the lifespan of each strain and studies on population doubling time and chromosomal instability revealed similar cellular characteristics in all family members, albeit to a lesser extent with the siblings than with the homozygotes when compared to age-matched controls. These features, also apparent in cultivated fibroblasts from old but healthy controls, appear to be indicative of Werner syndrome when expressed in young or middle aged persons. The possible identification of otherwise clinically healthy gene carriers of Werner syndrome is of utmost importance for genetic counselling and medical surveillance for this disorder.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jul
|
| pubmed:issn |
0047-6374
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:day |
5
|
| pubmed:volume |
88
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
1-15
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:8803918-Adolescent,
pubmed-meshheading:8803918-Adult,
pubmed-meshheading:8803918-Aged,
pubmed-meshheading:8803918-Aged, 80 and over,
pubmed-meshheading:8803918-Cell Division,
pubmed-meshheading:8803918-Cells, Cultured,
pubmed-meshheading:8803918-Chromosome Aberrations,
pubmed-meshheading:8803918-Chromosome Disorders,
pubmed-meshheading:8803918-Female,
pubmed-meshheading:8803918-Fibroblasts,
pubmed-meshheading:8803918-Humans,
pubmed-meshheading:8803918-Hyaluronic Acid,
pubmed-meshheading:8803918-Longevity,
pubmed-meshheading:8803918-Male,
pubmed-meshheading:8803918-Micronuclei, Chromosome-Defective,
pubmed-meshheading:8803918-Middle Aged,
pubmed-meshheading:8803918-Pedigree,
pubmed-meshheading:8803918-Phenotype,
pubmed-meshheading:8803918-Time Factors,
pubmed-meshheading:8803918-Werner Syndrome
|
| pubmed:year |
1996
|
| pubmed:articleTitle |
Werner syndrome: studies in an affected family reveal a cellular phenotype of unaffected siblings.
|
| pubmed:affiliation |
Institut für Medizinische Biologie und Humangenetik, Universität Innsbruck, Austria.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|