Hope in the fight against this disease? The researchers were able to identify the potential origin of Charcot’s disease, also called amyotrophic lateral sclerosis. His conclusions were published in the scientific journal Nature Neuroscience, on March 11.
This disease, still incurable today, is characterized by a paralysis of the progressive muscles of the muscles, which inevitably leads to the death of patients. In France, 8,000 people are affected, five deaths are accused of day according to the SLA Research Association. There are two forms: family forms (10%) and sporadic forms (90%).
The disease is incurable and its origin has been so mysterious. But a new track has been presented. Chinese researchers have identified a genetic anomaly in the DNA of patient mitochondria. As a reminder: Mitochondria provide energy to cells.
In total, of the 40 patients with the qualified sporadic form, therefore, without particular family history, half had the same mutation that affected the mitochondria respiratory chain. This same anomaly was later identified in other patients. Which suggests a correlation.
Artificially replicate the disease in rats
Additional proof of the problematic nature of this anomaly: This has been introduced into genetically modified rats. And, as they age, they have also developed symptoms similar to Charcot’s disease:
These elements represent “an important advance in therapeutic understanding and development,” welcomes researchers in conclusion of their study. But these results should be confirmed by more data, it will be necessary to identify a similar scheme with more patients.
The fact is that, in the face of this unique disease, this track is particularly promising. She could, in the endConsider therapeutic clues.
“If the results of this study are confirmed by the analysis of other cohorts of patients with SLA, it would be a great advance, both in diagnosis level for sporadic cases, but also to consider therapies,” with experience with Figaro Vincent Procaccio, of the Department of Medical Genetics of the Hospital of the Angers Hospital.
Source: BFM TV
