{
  "abstract": "Amyotrophic lateral sclerosis (ALS) is a motor neuron disease (MND) characterised by progressive degeneration of motor neurons, leading to death of patients 3–5 years after the onset of symptoms. Around 90% occur randomly and are considered as sporadic amyotrophic lateral sclerosis (sALS), whereas the remaining 10% of ALS are classified as familial amyotrophic lateral sclerosis (fALS). Among all factors involved in ALS pathogenesis, mitochondrial dysfunction has always been recognised as a key player, despite a causative role of mitochondria having always been debated.1 Recently, Cheng and colleagues identified a mitochondrial DNA (mtDNA) deletion (‘6692delA’) in 20 out of the 40 patients with sALS they analysed, suggesting a causal role in sALS.2 This variant, in a gene coding for a subunit of complex IV (CIV) of the respiratory chain, was present at 1% heteroplasmy in the blood of patients. They then demonstrated that CIV deficiency in rat motor neurons induces an ALS phenotype, thus confirming that a mitochondrial defect can trigger MND. Indeed, we previously showed that mutations in the CHCHD10 gene, coding for a mitochondrial protein, are responsible for mitochondrial disease associated with fALS.3",
  "authors": [
    {
      "affiliations": [
        "Department of Medical Genetics, Reference Centre for Mitochondrial Diseases, CHU Nice, Nice, France",
        "Université Côte d’Azur (UniCA), Inserm U1081, CNRS UMR 7284, IRCAN, Nice, France"
      ],
      "name": "Sylvie Bannwarth"
    },
    {
      "affiliations": [
        "Department of Medical Genetics, Reference Centre for Mitochondrial Diseases, CHU Nice, Nice, France",
        "Université Côte d’Azur (UniCA), Inserm U1081, CNRS UMR 7284, IRCAN, Nice, France"
      ],
      "name": "Veronique Paquis-Flucklinger"
    }
  ],
  "title": "Sporadic amyotrophic lateral sclerosis: what is the impact of the mitochondrial genome?",
  "uid": "982a70c5-1a3e-5527-867d-9d3323588a93"
}