Lack of amyloid plaque formation in the central nervous system of a patient with Werner syndrome.
Werner syndrome (WS) is an autosomal recessive disorder associated with accelerated aging. It is well documented on systemic aging but it is unclear whether the brain with WS shows accelerated aging. A 55-year-old patient with WS was studied and it was found that a deletion mutation of exon 26 of the WRN gene was not associated with CNS pathology, such as amyloid plaques or NFT. Furthermore, additional genetic analysis showed an apolipoprotein E genotype of epsilon3/epsilon3 that did not play either an accelerating or inhibitory action on' amyloid deposition. Therefore, based on the genetic and neuropathological analysis, it was observed that the WS-associated aging seen in many organs did not extend to the CNS.
Mori
Hiroshi
H
Department of Neuroscience, Institute of Gerontology, Osaka City University Medical School Osaka, Japan. mori@med.osaka-cu.ac.jp
Tomiyama
Takami
T
Maeda
Naoki
N
Ozawa
Kazuharu
K
Wakasa
KenIchi
K
D000328:Adult; D019588:Aging, Premature / Q000235:genetics / Q000473:pathology*; D001057:Apolipoproteins E / Q000235:genetics; D001483:Base Sequence; D001921:Brain / Q000473:pathology*; D004265:DNA Helicases / Q000235:genetics; D005090:Exodeoxyribonucleases; D016368:Frameshift Mutation / Q000235:genetics; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D016874:Neurofibrillary Tangles / Q000473:pathology; D058225:Plaque, Amyloid / Q000473:pathology; D053484:RecQ Helicases; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017384:Sequence Deletion / Q000235:genetics; D014898:Werner Syndrome / Q000235:genetics* / Q000473:pathology*; D000071657:Werner Syndrome Helicase
D001057:Apolipoproteins E; D005090:Exodeoxyribonucleases; D004265:DNA Helicases; D053484:RecQ Helicases; C098785:WRN protein, human; D000071657:Werner Syndrome Helicase