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O. Drapkina

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Review Open access Jul 2026

Analysis of biochemical markers in noninvasive assessment of mitochondrial dysfunction and mitochondrial health

Mitochondrial dysfunction is a complex of subcellular and molecular disturbances in the structure and function of mitochondria that play a key role in the pathogenesis of a wide range of diseases, from hereditary mitochondrial syndromes to age-related non-communicable diseases. The study of circulating biomarkers for non-invasive assessment of mitochondrial health is a promising research area in medical biochemistry, preventive medicine, and cardiology. The aim of this review is to systematize the results of current research on circulating non-invasive biomarkers of mitochondrial dysfunction and assess the potential for their clinical application. The review characterizes specific proteins associated with the structure and function of mitochondria, as well as enzymes and metabolites involved in catabolic pathways. Its analysis is carried out using immunochemistry, enzyme kinetics, and more complex laboratory technologies, including chromatography mass spectrometry. Analysis of serum biomarkers associated with mitochondrial dysfunction and associated metabolic pathways, such as fibroblast growth factor-21 (FGF-21), growth differentiation factor 15 (GDF-15), peroxisome proliferator-activated receptor-γ coactivator 1-α (PGC1α), neopterin, lactate, pyruvate, and ammonia, may serve as potential diagnostic or prognostic tools for obesity and related diseases, heart failure, atherosclerosis, hypertension, chronic respiratory failure, and neurodegenerative diseases.

O. Drapkina, Yuriy S Timofeev · CARDIOVASCULAR THERAPY AND P... · 0 citations

Open access Jul 2026

Intrafamilial heterogeneity of clinical manifestations of a FBN1 gene variant in Marfan syndrome

Marfan syndrome is an autosomal dominant hereditary disorder of connective tissue characterized by pronounced phenotypic variability. The presented case describes a family with clinical manifestations ranging from isolated ectopia lentis to severe aortic disease without a characteristic phenotype. Furthermore, the age of onset and rate of progression of cardiovascular disease in the relatives also varied significantly. Genetic testing identified a missense variant in exon 10 of the FBN1 gene, resulting in a substitution of a cysteine residue in the TB1 domain of fibrillin-1, which was considered likely pathogenic. Verification of the diagnosis of Marfan syndrome allowed for timely referral of the proband to a cardiovascular surgeon to determine further treatment and adjust therapy. This case also demonstrates that a causative variant does not allow for a definitive prognosis of the disease course. Therefore, all carriers of the identified variant require regular multidisciplinary monitoring, regardless of the severity of clinical manifestations at the time of diagnosis.

E. Baranovskaya, A. Bukaeva, V. A. Rumyantseva et al. · CARDIOVASCULAR THERAPY AND P... · 0 citations