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September 25 2009
Discovery takes researchers 1 step closer to human clinical trials and could improve understanding of other diseases
Using clever chemistry, a Scripps Research team has pinpointed the enzyme target of a drug group that stops the progression of the devastating disease Friedreich's ataxia in mice and may do the same for humans. The findings, developed in collaboration with scientists from Repligen Corporation, help advance this treatment approach one step closer toward human clinical trials, which will be a welcome event for disease sufferers who currently have few treatment options.
The work, reported as the cover article of the September 25, 2009 issue of the journal Chemistry & Biology, could also lead to treatments for related conditions such as Huntington's disease and the spinocerebellar ataxias.
"It will be very rewarding if our work actually leads to a therapy for Friedreich's," says Joel Gottesfeld, a professor in the Department of Molecular Biology and leader of the Scripps Research team that discovered the potential treatment. "This is a horrible disease."
Friedreich's ataxia, which afflicts about one of every 20,000 to 50,000 people in the United States, is caused by inadequate production of the protein frataxin, which leads to degeneration of nerve tissue and an array of associated complications including heart disease and scoliosis. In most cases, sufferers are ultimately confined to a wheelchair and many die as young adults.
Researchers have tied this low frataxin production to a large repetition of a specific triplet DNA pattern in the frataxin gene. Though many questions remain open, it appears that the unusual DNA structure resulting from these repetitions somehow attracts enzymes known as histone deacetylases (HDACs). These enzymes alter the packaging of the DNA in chromosomes in a way that inactivates the expression of the frataxin gene, though it remains intact.
Source: Scripps Research Institute
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The life of Marie Schlau, a German Jewish girl born in 1833 hides great unsolved mysteries: accidents, disappearances, enigmas, unknown diagnoses, disturbing murders, love, tenderness, greed, lies, death ... alternatively a different story unfolds every time and takes us closer to the present. Thus, there are two parallel stories unravelling, each in a different age and place, which surprisingly converge in a revelatory chapter.
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Currently, BabelFAmily is financing two promising research projects aimed at finding a cure for Friedreich's Ataxia. Whenever you make a donation to us or purchase a copy of "The legacy of Marie Schlau", this is where all funds raised will be devoted to:
1) Gene Therapy for Friedreich's Ataxia research project:
The project is the result of an initiative of Spanish people affected by this rare disease who are grouped in GENEFA in collaboration with the Spanish Federation of Ataxias and the BabelFAmily. The Friedreich’s Ataxia Research Alliance (FARA), one of the main patients’ associations in the United States now joins the endeavour.
2) Frataxin delivery research project:
The associations of patients and families Babel Family and the Asociación Granadina de la Ataxia de Friedreich (ASOGAF) channel 80,000 euros of their donations (50% from each organisation) into a new 18-month project at the Institute for Research in Biomedicine (IRB Barcelona). The project specifically aims to complete a step necessary in order to move towards a future frataxin replacement therapy for the brain, where the reduction of this protein causes the most damage in patients with Friedreich’s Ataxia.
The study is headed by Ernest Giralt, head of the Peptides and Proteins Lab, who has many years of experience and is a recognised expert in peptide chemistry and new systems of through which to delivery drugs to the brain, such as peptide shuttles—molecules that have the capacity to carry the drug across the barrier that surrounds and protects the brain. Since the lab started its relation with these patients’ associations in 2013*, it has been developing another two projects into Friedrich’s Ataxia.