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Mitochondrial Cristae Shape Determines Respiratory Chain Supercomplexes Assembly and Respiratory Efficiency
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Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells
TLDR
A step-by-step protocol for a simple and reliable assessment of the RC enzymatic function (complexes I–IV) for minute quantities of muscle, cultured cells and isolated mitochondria from a variety of species and tissues, by using a single-wavelength spectrophotometer is described.
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ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
Identification of single-gene causes of steroid-resistant nephrotic syndrome (SRNS) has furthered the understanding of the pathogenesis of this disease. Here, using a combination of homozygosity…
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COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
TLDR
6 different mutations in coenzyme Q10 biosynthesis monooxygenase 6 (COQ6) in 13 individuals from 7 families were identified and each mutation was linked to early-onset SRNS with sensorineural deafness, suggesting that coen enzyme Q10-related forms of SRNS and hearing loss can be molecularly identified and potentially treated.
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Age-Associated Loss of OPA1 in Muscle Impacts Muscle Mass, Metabolic Homeostasis, Systemic Inflammation, and Epithelial Senescence
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The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.
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A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency.
TLDR
In two siblings of consanguineous parents with the infantile form of CoQ(10) deficiency, a homozygous missense mutation in the COQ2 gene, which encodes para-hydroxybenzoate-polyprenyl transferase is identified, which is the first molecular cause of primary CoQ ( 10) deficiency.
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Sarcopenia: Aging-Related Loss of Muscle Mass and Function.
TLDR
This review focuses on the aging-related structural changes and mechanisms at cellular and subcellular levels underlying changes in the individual motor unit: specifically, the perikaryon of the α-motoneuron, its neuromuscular junction(s), and the muscle fibers that it innervates.
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Coenzyme Q biosynthesis in health and disease.
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Mitochondrial DNA depletion and dGK gene mutations
TLDR
The discovery of mutations in the deoxyguanosine kinase (dGK) gene in patients with the hepatocerebral form of mitochondrial DNA depletion syndrome prompted us to screen 21 patients to determine the frequency of dGK mutations, further characterize the clinical spectrum, and correlate genotypes with phenotypes.
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