Regulation of α-Synuclein Gene Expression and PD Risk

New data support the concept that the rate of SNCA gene transcription contributes to the expression of a parkinsonian phenotype, at least in some subjects.

Rare forms of familial Parkinson disease (PD) have been linked to three heterozygous missense mutations and various multiplication events in the gene for α-synuclein (SNCA). The mutations lead to misprocessing, increased steady states of the encoded protein, or both. Numerous studies have examined the effect of sequence variabilities within the regulatory 5′ promoter region of the SNCA gene on PD risk, with conflicting results. Now, a multicenter collaborative study provides renewed support for a wider role for SNCA in PD susceptibility.

Researchers analyzed DNA specimens from 2692 patients with PD and 2652 healthy controls, from 11 sites worldwide, to determine whether allele-length variability in a dinucleotide repeat stretch of the SNCA p…

Reviewing Author

Michael G. Schlossmacher, MD