Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder with symptoms limited to a single tissue, optic nerve, resulting in vision loss. In the majority of cases it is caused by one of ...three point mutations in mitochondrial DNA (mtDNA) but their presence is not sufficient for disease development, since ~50% of men and ~10% women who carry them are affected. Thus additional modifying factors must exist. In this study, we use next generation sequencing to investigate the role of whole mtDNA variation in male Polish patients with LHON and m.11778G > A, the most frequent LHON mutation. We present a possible association between mtDNA haplogroup K and variants in its background, a combination of m.3480A > G, m.9055G > A, m.11299 T > C and m.14167C > T, and LHON mutation. These variants may have a negative effect on m.11778G > A increasing its penetrance and the risk of LHON in the Polish population. Surprisingly, we did not observe associations previously reported for m.11778G > A and LHON in European populations, particularly for haplogroup J as a risk factor, implying that mtDNA variation is much more complex. Our results indicate possible contribution of novel combination of mtDNA genetic factors to the LHON phenotype.
Mitochondrial Genome Variation in Polish Elite Athletes Piotrowska-Nowak, Agnieszka; Safranow, Krzysztof; Adamczyk, Jakub G. ...
International journal of molecular sciences,
08/2023, Volume:
24, Issue:
16
Journal Article
Peer reviewed
Open access
Energy efficiency is one of the fundamental athletic performance-affecting features of the cell and the organism as a whole. Mitochondrial DNA (mtDNA) variants and haplogroups have been linked to the ...successful practice of various sports, but despite numerous studies, understanding of the correlation is far from being comprehensive. In this study, the mtDNA sequence and copy number were determined for 99 outstanding Polish male athletes performing in power (n = 52) or endurance sports (n = 47) and 100 controls. The distribution of haplogroups, single nucleotide variant association, heteroplasmy, and mtDNA copy number were analyzed in the blood and saliva. We found no correlation between any haplogroup, single nucleotide variant, especially rare or non-synonymous ones, and athletic performance. Interestingly, heteroplasmy was less frequent in the study group, especially in endurance athletes. We observed a lower mtDNA copy number in both power and endurance athletes compared to controls. This could result from an inactivity of compensatory mechanisms activated by disadvantageous variants present in the general population and indicates a favorable genetic makeup of the athletes. The results emphasize a need for a more comprehensive analysis of the involvement of the mitochondrial genome in physical performance, combining nucleotide and copy number analysis in the context of nuclear gene variants.
The etiology of common complex diseases is multifactorial, involving both genetic, and environmental factors. A role for mitochondrial dysfunction and mitochondrial DNA (mtDNA) variation has been ...suggested in the pathogenesis of common complex traits. The aim of this study was to investigate a potential role of mtDNA variants in the development of obesity, diabetes, and atherosclerosis in the Polish population. Whole mtDNA sequences from 415 Polish individuals representing three disease cohorts and a control group were obtained using high-throughput sequencing. Two approaches for the assessment of mtDNA variation were applied, traditional mitochondrial haplogroup association analysis and the mutational or variant load model using the MutPred pathogenicity prediction algorithm for amino acid substitutions in humans. We present a possible association between mildly deleterious mtDNA variant load and atherosclerosis that might be due to having more than one likely mildly deleterious non-synonymous substitution. Moreover, it seems largely dependent upon a few common haplogroup associated variants with MutPred score above 0.5.
Activities of 19 hydrolases were estimated in cell suspensions of 40
Brochothrix thermosphacta strains, isolated from meat and meat products packaged under various conditions, by using API ZYM® test. ...These strains produced: acidic phosphatase, esterase C4, esterase/lipase C8, α-chymotrypsin, leucine arylamidase, β-glucosidase and α-glucosidase. The predominating biotype produced only the first four of the listed enzymes. The extracellular lipolytic activity for bromo-chloro-indolyl-caprylate was detected only in culture broth supernatants of 4 strains thereby indicating that esterase/lipase C8 is cell-bound. 13 of the strains displayed proteolytic activity for albumin at 4
°C (0.31–2.07
U) while 9 strains showed this activity at 25
°C (0.11–1.21
U). Only 4 strains digested albumin at both temperatures. Thus the meat spoilage potential of
B. thermosphacta strains results not only from digestion of carbohydrates but also from their proteolytic activity.
►
Brochothrix thermosphacta show proteolytic activity in 4 and 25
°C. ► The proteolytic activity is independent of bacterial origin. ►
Brochothrix thermosphacta show extracellular lipolytic activity only in 25
°C. ►
B. thermosphacta lipases preferring esters of glycerol and short chain fatty acids.
Glaucoma is one of the leading causes of visual impairment and blindness worldwide. However, the cause of retinal ganglion cell loss and damage of the optic nerve in its pathogenesis is largely ...unknown. The high energy demands of these cells may reflect their strong dependence on mitochondrial function and thus sensitivity to mitochondrial defects. To address this issue, we studied whole mitochondrial genome variation in normal tension glaucoma patients and control individuals from the Polish population using next generation sequencing. Our findings indicate that few features of mitochondrial DNA variation are different for glaucoma patients and control subjects. New insights into normal tension glaucoma development are discussed. We provide also a comprehensive approach for mitochondrial DNA analysis and variant evaluation.
•Large-scale deletions of mtDNA were not common in blood of NTG patients.•Mitochondrial haplogroup H1 was significantly associated with NTG.•NTG cohort exhibited a higher total load of rare mtDNA variants, and in particular in MT-ND6 gene, compared to controls.•Rare coding variants were commonly detected in both groups with no difference in the possibly pathogenic variant load.•A m.12705C > T and m.310T > C variants were less prevalent in NTG patients suggesting they may be protective factors.
The objective of the study was to determine the Minimal Inhibitory Concentration (MIC) of thyme (29.4% thymol, 21.6% p-cymene) and rosemary essential oils (27.6% 1,8-cineole, 13.5% limonene, 13.0% ...β-pinene) against Brochothrix thermosphacta and to establish the feasibility of their use as components of modified atmosphere during beef refrigerated storage. The minimum inhibitory concentration (MIC) of thyme oil against B. thermosphacta is 0.05% and that of rosemary oil 0.5%. The MIC values are independent on strain and temperature of growth, however the bactericidal effects are strain dependent. The addition of any of oil at a concentration equal to 2MIC to the modified atmosphere (80% O2/20% CO2) does not significantly influence the microbial quality of meat. At the same time, such a concentration of the essential oils was considerably detrimental to the organoleptic factors.
► Brochothrix thermosphacta are sensitive both to thyme and rosemary EOs. ► MIC of thyme EOs for B. thermosphacta is 0.05%. ► MIC of rosemary EOs for B. thermosphacta is 0.5%. ► The application of these oils as MA components does not bring the expected results.
This comprehensive case analysis aimed to identify the features enabling a runner to achieve championship in 24-h ultramarathon (UM) races. A 36-year-old, multiple medalist of the World Championships ...in 24-h running, was assessed before, one and 10 days after a 24-h run. Results of his extensive laboratory and cardiological diagnostics with transthoracic echocardiography (TTE) and a one-time cardiopulmonary exercise test (CPET) were analyzed. After 12 h of running (approximately 130 km), the athlete experienced an increasing pain in the right knee. His baseline clinical data were within the normal range. High physical efficiency in CPET (VO
max 63 mL/kg/min) was similar to the average achieved by other ultramarathoners who had significantly worse results. Thus, we also performed genetic tests and assessed his psychological profile, body composition, and markers of physical and mental stress (serotonin, cortisol, epinephrine, prolactin, testosterone, and luteinizing hormone). The athlete had a mtDNA haplogroup H (HV0a1 subgroup, belonging to the HV cluster), characteristic of athletes with the highest endurance. Psychological studies have shown high and very high intensity of the properties of individual scales of the tools used mental resilience (62-100% depending on the scale), openness to experience (10th sten), coherence (10th sten), positive perfectionism (100%) and overall hope for success score (10th sten). The athlete himself considers the commitment and mental support of his team to be a significant factor of his success. Body composition assessment (%fat 13.9) and the level of stress markers were unremarkable. The tested athlete showed a number of features of the champions of ultramarathon runs, such as: inborn predispositions, mental traits, level of training, and resistance to pain. However, none of these features are reserved exclusively for "champions". Team support's participation cannot be underestimated. The factors that guarantee the success of this elite 24-h UM runner go far beyond physiological and psychological explanations. Further studies are needed to identify individual elements of the putative "mosaic theory of being a champion".
The multiple sclerosis (MS) is characterized by variable clinical symptomatology, neuroradiological changes and neuropathological features, what influence the variable course of disease.
It was to ...describe the type of nervous system involvement in children with MS, considering the clinical manifestation and neuroradiological changes.
9 children with multiple sclerosis hospitalized in the Department of Pediatric Neurology Chair of Pediatric and Adolescent Neurology, in 2006 and 2007 year were included. There were 5 girls aged 14-17 years and 4 boys aged 10-17 years. The history, clinical examination as well as head MRI were performed in all children, and in 2 children the spinal cord MRI as well. McDonald's criteria were employed. In 8 children oligoclonal bands in the cerebrospinal fluid were examined, in 6 children VEP and in 4 BAEP as well.
The most common clinical manifestations of MS were superficial sensory deficits, vertigo and diplopia. In 4 children with two attacks of symptoms disseminated in OUN, the head MRI revealed disseminated demyelination in the brain and in 1 child also demyelination in the cervical spinal cord. In 3 of patients oligoclonal bands were detected, and also in 3 children pathological VEP. In 2 other children only 1 attack was observed with symptoms disseminated in CNS, correlating with neuroradiological picture, within in 1 of them clinically silent progression of demyelination was revealed in the second MRI. In other children hospitalized after first attack with clinically isolated syndrome, demyelination was disseminated CNS, and in the youngest male patients oligoclonal bands were positive.
The most common clinical manifestations of MS were superficial sensory deficits, vertigo and visual disturbances, the least typical was organic based psychotic manifestation. The most common MR changes were located in the white matter of centrum semiovale and in corona radiata.
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