Mitochondrial myopathies
RSS feedPyrimidine nucleotide therapy appears to reduce mortality and restore motor function in TK2 deficiency.
A multicentre retrospective study evaluated the effects of daily oral administration (treatment lasting on average approximately two years) of deoxycytidine or deoxythymidine (†800 mg/kg/day) in 38 children and adults with thymidine kinase 2 deficiency (TK2d), an ultra-rare mitochondrial myopathy. The investigators compared their clinical progression with data from a control group of 69 patients … [Read more]
Launch of the MitoGether website, a reference for genetic mitochondrial diseases
To celebrate the World Mitochondrial Disease Week (September 15th to 21st), the MitoGether consortium, comprising 12 patient associations and their families including AFM-TĂ©lĂ©thon, is launching a reference website. It aims to be the leading resource on mitochondrial genetic diseases, providing expert information on research, diagnosis, medical care and treatment for these diseases, which are associated … [Read more]
Tadalafil and sildenafil have beneficial effects in patients with primary mitochondrial diseases
Following the identification of a patient with Kearns-Sayre syndrome who reported significant clinical improvements while taking tadalafil, a Hungarian-American research team studied the efficacy of this molecule and sildenafil, either of which was administered to six patients with primary mitochondrial diseases (MELAS, Kearns-Sayre syndrome, etc.) off-label. Analysis of patient fibroblasts incubated with tadalafil or sildenafil … [Read more]
A candidate biomarker for mitochondrial diseases: serum chitotriosidase 1
Elevation of serum chitotriosidase is a biomarker of lysosomal diseases, particularly in Niemann-Pick disease. Recently, the lysosomal component of mitochondrial diseases has been discussed. Serum chitotriosidase (CHIT1) was measured in 117 people with neuromuscular diseases (90 hereditary, 27 inflammatory), 34 with mitochondrial diseases, 8 with Niemann-Pick type C and 38 controls. It is significantly elevated … [Read more]
Is the PI3K-AKT-MTORC1 signalling pathway a therapeutic target in mitochondrial diseases?
In cells from patients suffering from mitochondrial myopathy and carrying the m.3243A>G mutation in the MT-TL1 mitochondrial gene, in which the PI3K-AKT-MTORC1 signalling pathway is abnormally activated, researchers looked at the effects of inhibiting this signalling pathway (with rapamycin, LY294002, etc.) and showed : restoration of mitophagy and a reduction in mutational load ; signs … [Read more]
Promising phase IIb results with sonlicromanol in mitochondrial myopathies caused by the m.3243A>G mutation
Positive results have been published from a phase IIb clinical trial evaluating the drug candidate sonlicromanol in mitochondrial diseases caused by the m.3243A>G mutation. The trial was conducted in two stages: A first, randomised, controlled part in which 27 patients were divided into three groups, depending on whether they received 50 mg, 100 mg sonlicromanol … [Read more]
Analysis of a large French cohort of patients with mitochondrial diseases
The French network of diagnostic laboratories for mitochondrial diseases (MitoDiag) has published the results of a clinical and genetic study (panel, WGS and/or WES on the nuclear genome) of around 2,000 patients suspected of having a primary mitochondrial disease (PMD). The authors observed: pathogenic variants in 397 patients (newborn to 81 years), 74% of whom … [Read more]
 European recommendations for the treatment of epilepsy in mitochondrial diseases
A group of 24 experts (two of whom practice in France), members of five European reference networks, used the Delphi method to draw up recommendations for the treatment of epilepsy in primary mitochondrial diseases: consensus was rapidly reached on the safe use of 14 of the 25 antiepileptic drugs studied for children and adults; for … [Read more]
Adult mitochondrial myopathy: very slowly progressive muscular damage of the limbs, often associated with multisystem damage and high mortality
A retrospective study at the Mayo Clinic in Rochester (Minnesota, USA) was based on 94 cases of mitochondrial myopathy diagnosed in adulthood and followed up between 2005 and 2021: the mean time between the first signs and diagnosis was 11 years and the median age at diagnosis was 48 years (range 32 to 63 years); … [Read more]
Overview of neuromuscular diseases
After a brief reminder of the structure of the motor unit and the various modes of inheritance, this document provides short descriptions of the neuromuscular diseases that are part of our scope at AFM-TĂ©lĂ©thon, as well as how to manage and treat them. For each group of diseases, as well as in the motor unit … [Read more]
