ANE International is always looking to connect with medical professional that are working on different aspect of Acute Necrotizing Encephalopathy (ANE). This is a review of what ANE International knows regarding to the study of ANE.
ANE first proposed by Mizuguchi et al. in 1995, is a distinctive type of acute encephalopathy with global distribution. It is generally considered to be a parainfectious disease that is triggered mainly by viral infections (2015 Xiujuan Wu et al)
As far as ANE International is aware the last study involving humans was the Genetic Mechanisms of Acute Necrotizing Encephalopathy by lead by Dr. Derek Neilson at Cincinnati children’s hospital started July 1st 2005 and ended June 30th, 2010. The goal of the study was to : intend to identify the genetic and biochemical contributions to ANE by pursuing two independent and complementary approaches. The first will identify causative genes through linkage analysis and candidate gene sequencing in affected families. The second will examine patient derived cell cultures for defects in oxidative phosphorylation. The synergistic approach that these Aims employ will result in a much stronger characterization of the pathogenic mechanisms that cause ANE.
The first part of the study identified the RANBP2/NUP358 as the causative gene in genetic cases of ANE. The RANBP2 is a component of the nuclear pore complex and plays a role in facilitation of protein import and export, sumoylation of protein cargoes, intracellular trafficking, and energy maintenance (Neilson et al., 2009) . RAN is a small GTP-binding protein of the RAS superfamily that is associated with the nuclear membrane and is thought to control a variety of cellular functions through its interactions with other proteins (Yokoyama et al., 1995).
There’s currently lab research namely CalTech and Palazzo Lab being done on the RANBP2/NUP358 gene by synthetically creating the mutation by gene manipulation or from rats to understand this mutations more clearly. CalTech is actively working on the ANE1 mutation in RANBP2/Nup358 and believe that they have made significant advance that they hope that it will publish this year.
Recently Palazzo Lab has applied for a grant for money to the CIHR in regards to a study that his lab is doing on RANBP2. The CIHR wants all funded studies to take into account whether there are differences between males and females. The Palazzo Lab made the case that they will take all patients (ranpb2 with ANE & Ranbp2 carriers only) willing to help but that we may be limited due to the small sample size. The current number for our international group as about 167 members of varying of ages, social economic, genetic and non-genetic. This is a significant increase from the 6 members, we had in April 2016. ANE International finds it interesting that medical professional still indicates to our families that there’s only 150-300 documented cases worldwide. We believe that this number is grossly underestimated, in part due to lack of proper diagnosis at onset and in part from the silo communication in the medical community which are now being broken giving ANE a better chance of being properly diagnosed.
As our community grows, we are looking for medical students and professionals that would be interested in understanding this devastating disease and sharing their knowledge with us.
We can be reached at email@example.com