RGD Reference Report - Beta-synuclein gene alterations in dementia with Lewy bodies. - Rat Genome Database

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Beta-synuclein gene alterations in dementia with Lewy bodies.

Authors: Ohtake, H  Limprasert, P  Fan, Y  Onodera, O  Kakita, A  Takahashi, H  Bonner, LT  Tsuang, DW  Murray, IV  Lee, VM  Trojanowski, JQ  Ishikawa, A  Idezuka, J  Murata, M  Toda, T  Bird, TD  Leverenz, JB  Tsuji, S  La Spada, AR 
Citation: Ohtake H, etal., Neurology. 2004 Sep 14;63(5):805-11.
RGD ID: 6219004
Pubmed: PMID:15365127   (View Abstract at PubMed)
PMCID: PMC1808539   (View Article at PubMed Central)

OBJECTIVE: To determine whether mutations in the genes for alpha-synuclein or beta-synuclein are responsible for dementia with Lewy bodies (DLB), a disorder closely related to Parkinson disease (PD). METHODS: The authors ascertained 33 sporadic cases of DLB and 10 kindreds segregating DLB. DNA samples from the 43 index cases were screened for alterations in the genes for alpha-synuclein and beta-synuclein, as alpha-synuclein alterations cause PD and beta-synuclein may modulate alpha-synuclein aggregation and neurotoxicity. RESULTS: Two amino acid alterations were identified in unrelated DLB index cases: a valine to methionine substitution at codon 70 (V70M) and a proline to histidine substitution at codon 123 (P123H), both in the beta-synuclein gene. These amino acid substitutions occur at conserved residues in highly conserved regions of the beta-synuclein protein. Screening of at least 660 chromosomes from control subjects matched to the patients' population groups failed to identify another V70M or P123H allele. Cosegregation analysis of an extended pedigree segregating the P123H beta-synuclein alteration suggested that it is a dominant trait with reduced penetrance or a risk factor polymorphism. Histopathology and immunohistochemistry analysis of index case brain sections revealed widespread Lewy body pathology and alpha-synuclein aggregation without evidence of beta-synuclein aggregation. CONCLUSION: Mutations in the beta-synuclein gene may predispose to DLB.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Lewy body dementia  IAGP 6219004DNA:mutations:cds:p.V70M and P123H (human)RGD 
Lewy body dementia  ISOSNCB (Homo sapiens)6219004; 6219004DNA:mutations:cds:p.V70M and P123H (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Sncb  (synuclein, beta)

Genes (Mus musculus)
Sncb  (synuclein, beta)

Genes (Homo sapiens)
SNCB  (synuclein beta)


Additional Information