Is the NACP/Synuclein gene involved in early-onset Alheimer`s disease?

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:134739

Champion, D; Clerget-Darpoux, F ^[1]; Frebourg, T ^[2]

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1. INSERM, Paris (France)
2. CHU de Rouen (France)

The major component of senile plaques (SP), the most specific histologic lesion of Alzheimer`s disease (AD) is the A4 peptide, derived from a large precursor protein (APP). Recently, a second major component of SP has been isolated. This 35 AA peptide was named non-A4 component amyloid (NAC) and its precursor - a 140 AA protein - was named NACP. Computer homology search has allowed us to establish that the NACP gene is homologous to the rat synuclein gene which is expressed in neurons. Since APP mutations have been shown to cause early-onset Alzheimer`s disease (EOAD) in several families, we investigated whether the NACP/synuclein gene was also involved in familial early-onset Alzheimer`s disease (FEOAD). RT-PCR and direct sequencing of the entire NACP open reading frame did not reveal any alteration of the NACP coding sequence in lymphocytes of 26 unrelated FEOAD patients. We showed that the NACP/synuclein gene was alternatively spliced and that the different transcripts potentially encoded for distinct proteins all containing the NAC peptide. Accumulation of NAC in SP might result from a dysregulation of NACP/synuclein expression.

• OSTI ID: 134739
• Report Number(s): CONF-941009--
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
AGE DEPENDENCE
AMINO ACIDS
COMPARATIVE EVALUATIONS
DNA SEQUENCING
GENE MUTATIONS
GENE REGULATION
GENES
GENETICS
HEREDITARY DISEASES
MENTAL DISORDERS
NERVOUS SYSTEM DISEASES
PATIENTS
PEPTIDES
POLYMERASE CHAIN REACTION
RATS
SPLICING
TRANSCRIPTION