Longevity-associated variant of bpifb4 confers neuroprotection in the sthdh cell model of huntington disease

HIGHLIGHTS

SUMMARY

With regard to jurisdictional claims in Huntington`s disease (HD) is an autosomal-dominant neurodegenerative disorder characterized by progressive motor, cognitive, and psychiatric symptoms that typically emerge in midlife. The resultant 4-SNPs haplotype distinguishes the wild-type (WT) Ile229/Asn281/Leu488/Ile494-BPIFB4 isoform (allele frequency, 66%) from the longevityassociated variant (LAV) Val229/Thr281/Phe488/Thr494-BPIFB4 (allele frequency, 29.5%) and the rare variant (RV) Ile229/Asn281/Phe488/Thr494-BPIFB4 (allele frequency, 4%). Carriers of the LAV allele have higher BPIFB4 circulating protein levels and homozygous for the minor allele display increased . . .

 



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