Decade. Over the past week, winter storm Fern has blanketed large parts of the United States with several feet of snow, leading to a virtual standstill in many regions. When I looked back, I realized that the last major snowstorm that paralyzed public life was a decade ago, a storm called Jonas. Snowed in exactly ten years ago, I reflected on the state of epilepsy genetics. Let’s see what has changed in the field since Jonas in 2016.
Tag Archives: RANBP2
Influenza and acute necrotizing encephalopathy – the genetic dimension
ANE. A rare complication with hidden genetic clues. Imagine a healthy child who goes to bed with a fever and wakes up unable to recognize their parents, slipping rapidly into coma. This is the terrifying course of acute necrotizing encephalopathy (ANE), one of the most severe neurological complications of influenza. In a recent study, children with influenza who developed ANE showed an unexpected pattern: nearly half of those tested carried genetic variants that might predispose them to this devastating complication.
Methusalem proteins in the brain
You are what you eat. During medical school, I spent a year in Lexington, Kentuck,y as an exchange student. When I went out for lunch with some of my classmates one day, the discussion came up what percentage of my total body protein would be European versus American after one year. It turns out that most proteins have a high turnover rate and are constantly rebuilt and removed. This makes sense as proteins do not have dedicated repair mechanisms as does DNA. However, some proteins seem to linger. A recent study in Cell now identifies long-lived proteins in the brain. And it appears that the gatekeepers of the neuronal nucleus are pretty much built to last forever, and dysfunction of these proteins may contribute to neurological diseases. Continue reading