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JNNP: methionine homozygosity for PRNP polymorphisms and susceptibility to human prion disease

 Last Update: 2022-05-24
 Source: Internet
 Author: User

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Human prion disease is a fatal transmissible spongiform encephalopathy caused by the accumulation of abnormal prion proteins in the central nervous system

The association of the PRNP polymorphism at codon 129 with susceptibility to prion disease is well known

This article was published in the Journal of Neurology, Neurosurgery & Psychiatry .

Prion disease experts organized a monitoring committee consisting of neurologists, neurosurgeons, psychiatrists, neurologists, radiologists and epidemiologists

Research Process

All patients enrolled in the database from April 1999 to February 2021 were eligible for the study

The codon 129 polymorphisms are divided into two categories: Met/Met and others (Met/Val and Val/Val)

Codon 129 methionine homozygotes and the occurrence of hereditary prion diseases

The independent effect of the PRNP polymorphism at codon 129 on prion disease development was estimated, adjusting for the codon 219 polymorphism and other potential confounders

KosamiK ,AeR ,HamaguchiT , et alMethionine homozygosity for PRNP polymorphism and susceptibility to human prion diseasesJournal of Neurology, Neurosurgery & PsychiatryPublished Online First: 06 April 2022.

Kosami K , Ae R , Hamaguchi T Kosami KKosami Ae RAe Hamaguchi THamaguchi, et al Methionine homozygosity for PRNP polymorphism and susceptibility to human prion diseasesJournal of Neurology, Neurosurgery & Psychiatry Published Online First: 06 April 2022.

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