Category: Timeline Stories

Timeline Stories

First Published Consensus Statement by our MLC Consortium

This is the first published statement from our MLC consortium, a team of clinical MLC experts.  Here, the consortium delves into a recent case report of two MLC patients taking Anakinra. While the original study hinted at positive effects, the experts caution that it is difficult to interpret these results as there is no comparison..Read More

Timeline Stories

Two new genes that cause MLC

In this study researchers identified two new genes that cause MLC, named AQP4 and GPRC5B. Along with MLC1 and GLIALCAM, this now makes a total of 4 genes associated with MLC, although mutations in AQP4 and GPRC5B appear to be more rare.  AQP4 encodes Aquaporin-4, an important brain water channel expressed in astrocytes. GPRC5B is what we call a G protein-coupled receptor, which is a broad family of..Read More

Timeline Stories

Brain vasculature is affected in MLC

This study uses an MLC mouse model to investigate how brain vasculature is altered in MLC. It was discovered that the interactions between astrocytes and blood vessels are disrupted in this disease. Read paper

Timeline Stories

Identification of potential therapeutic targets

A study of MLC1 and GlialCAM protein interactions identifies possible therapeutic targets. Beyond an important role in volume regulation and localization, there are still many unanswered questions about the exact function of MLC1 and GlialCAM. This paper seeks to answer this question by examining what proteins MLC1 and GlialCAM interact with. Importantly, these proteins were..Read More

Timeline Stories

Relationship between MLC proteins and Connexin 43

Gap junctions which connect astrocytes are very important to move ions between different cells. Two studies indicate that gap junctions are impaired in MLC. This impairment might contribute to the presence of epilepsy in MLC. Paper 1, Paper 2

Timeline Stories

MLC1 is important for determining cell shape and movement

Further characterization of the MLC1 protein demonstrates that its localization to astrocyte end-feet is important for proper actin remodeling which controls cell shape and motility. MLC1 mutants demonstrated changes in actin dynamics, suggesting a potential disease mechanism of MLC.   Read paper

Timeline Stories

The first therapeutic study of MLC

Here, the authors use a gene therapy approach in an MLC mouse model in an attempt to improve the disease. They inject a virus that delivers a healthy copy of the MLC1 gene into a strongly affected brain region of MLC mice. This leads to a local recovery of the myelin vacuoles in the white..Read More

Timeline Stories

Generation of two new GlialCAM mouse models

In this paper, the researchers created two new GlialCAM mouse models with patient mutations: the first with autosomal recessive inheritance and one with autosomal dominant inheritance. Studying mice with different inheritance and human mutations is important to increase our understanding of the classical and improving disease presentations. Read paper

Timeline Stories

MLC1 plays a role in counteracting inflammation

This study provides further information on the function of the MLC1 protein by investigating its role in inflammation. The results here demonstrate that MLC1 helps control the response of astrocytes to inflammation. Read paper

Timeline Stories

A comprehensive clinical study on MLC

This clinical study provides data on a large group of MLC patients. The frequency of different clinical features of MLC in both the classical and improving MLC patients is documented. This is the most comprehensive clinical study on MLC to date. Read paper


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