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Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts
P A J Leegwater1, P K I Boor, B Q Yuan
1Department for Clinical Chemistry, Free University Medical Center, Amsterdam, The Netherlands.
Abstract:
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an inherited neurologic disorder with macrocephaly before the age of one and slowly progressive deterioration of motor functions. Magnetic resonance imaging shows diffusely abnormal and swollen white matter of the cerebral hemispheres and the presence of subcortical cysts in the anterior-temporal region and often also in the frontoparietal region. Mutations in the MLC1 gene, encoding a putative membrane protein, have been recently identified as a cause for MLC. Here, we describe 14 new mutations in 18 patients. Two identified polymorphisms lead to alterations of amino acid residues. The role, suggested by others, of a mutation in the MLC1gene in catatonic schizophrenia and the possible function of the MLC1 protein as a cation channel are discussed.
Insights
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a genetic brain disorder. Researchers identified 14 new mutations in the MLC1 gene, furthering understanding of this rare condition.
Area of Science:
- Neurogenetics
- Molecular Neurology
Background:
- Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an inherited neurologic disorder characterized by early-onset macrocephaly and progressive motor dysfunction.
- MRI reveals diffuse white matter abnormalities and subcortical cysts in affected individuals.
Purpose of the Study:
- To identify novel mutations in the MLC1 gene associated with Megalencephalic leukoencephalopathy with subcortical cysts.
- To further investigate the genetic basis and potential functions of the MLC1 protein.
Main Methods:
- Genetic analysis of 18 patients diagnosed with MLC.
- Sequencing of the MLC1 gene to identify mutations and polymorphisms.
- Review of clinical and imaging findings.
Main Results:
- Identification of 14 previously undescribed mutations in the MLC1 gene in 18 patients.
- Discovery of two polymorphisms resulting in amino acid alterations.
- Discussion of the potential role of MLC1 mutations in catatonic schizophrenia.
Conclusions:
- The MLC1 gene is a significant contributor to Megalencephalic leukoencephalopathy with subcortical cysts.
- Further research into MLC1's function, potentially as a cation channel, is warranted.
- Genetic variations in MLC1 may have broader implications in neurological disorders.