The way in which the most common genetic abnormality in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) kills neurons has been discovered by researchers.
Researchers have also successfully developed a therapeutic strategy to block this neurodegeneration in neurons made from the skin cells of ALS patients. The findings, which are published online in the October 16th issue of the Cell Press journal Neuron, have important implications for treating patients with these debilitating, currently incurable neurodegenerative diseases.
Genetic Testing of Diseases
Genetic testing helps to confirm a genetic condition in an individual and involves q complex laboratory techniques
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The most common genetic mutation in ALS and FTD is an abnormal repeated expansion of the coding sequence within a gene, C9ORF72, with unknown function. This mutation has been found in at least 8% of sporadic ALS and FTD cases and more than 40% of hereditary ALS and FTD cases.
"We designed experiments to find out how the repeat expansion in C9ORF72 causes cell death and disease progression," says co-senior author Dr. Rita Sattler, of Johns Hopkins University. "We used human skin cells that we obtained from patients affected with ALS and converted them into neurons via a technology called induced pluripotent stem cell production," she explains.
Source: Eurekalert
Source: Eurekalert
Epigenetics
In the recent years 'epigenetics' represents inheritable changes in gene expression that do not include DNA alterations.
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