Mitochondrial myopathies
RSS feedA 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-Téléthon, as well as how to manage and treat them. For each group of diseases, as well as in the motor unit … [Read more]
The clinical spectrum of MELAS and associated diseases
The Mayo Clinic team reviewed the records of 81 patients with characteristic clinical MELAS or with a positive genetic test for MELAS but without all the clinical criteria, with a mean follow-up of 5.8 years: 42 had MELAS, including 13 with a “late” onset, i.e. where the first neurological vascular pseudo-episode occurred after the age … [Read more]
MELAS: a precision endonuclease to reverse the ratio of mutated to normal mitochondrial DNA
ARCUS endonucleases developed by Precisions BioSciences (Durham, United States) are, unlike ZNF or TALENS nucleases, unique protein components, which means they can be integrated into AAV9. The mitoARCUS endonuclease has been specifically developed to eliminate the m.3243A>G mitochondrial DNA mutations responsible for more than 80% of MELAS syndromes. When tested on a cell line and … [Read more]
An overview of the management of mitochondrial diseases in Europe
To gain a better understanding of the needs in terms of diagnosis, management and training in primary mitochondrial myopathies in Europe, a survey was carried out among 220 healthcare professionals in 31 European countries. Its findings highlight persistent difficulties: the diagnosis and management of these diseases remain complex and vary from country to country. Comprehensive … [Read more]
