A novel frameshift mutation in ADCK1 identified in a case of chronic fatigue syndrome successfully treated with oral 5-ALA/SFC DOI Creative Commons
Tomohiro Koga, Kiyoshi Kita, Junko Okumura

et al.

Immunological Medicine, Journal Year: 2024, Volume and Issue: unknown, P. 1 - 5

Published: Dec. 26, 2024

Chronic Fatigue Syndrome (CFS) is a complex disorder characterized by prolonged, unexplained fatigue and challenging diagnosis. We report the case of 35-year-old Japanese woman with CFS who had experienced chronic since age 11 years. Despite treatment modafinil, methylphenidate, levocarnitine, ubiquinone, symptoms persisted. Introduction oral 5-aminolevulinic acid sodium ferrous citrate (5-ALA/SFC) led to significant improvements in daily activities, mobility, psychosocial functioning. Genetic analysis revealed novel heterozygous frameshift deletion ADCK1 (p.Asn280fs), gene related mitochondrial function, which was confirmed using cDNA sequencing. deficiency has been associated developmental disabilities, dysfunction, increased reactive oxygen species levels, apoptosis Drosophila muscle cells. This supports hypothesis that mutations contribute dysfunction pathogenesis. The patient's clinical improvement 5-ALA/SFC ubiquinone suggests their potential for addressing dysfunction. Further functional familial analyses are required confirm role this mutation CFS. highlights importance considering CFS, therapeutic benefits ubiquinone.

Language: Английский

Effects of Dietary Habits on Markers of Oxidative Stress in Subjects with Hashimoto’s Thyroiditis: Comparison Between the Mediterranean Diet and a Gluten-Free Diet DOI Open Access

M. Laganà,

Tommaso Piticchio, Angela Alibrandi

et al.

Nutrients, Journal Year: 2025, Volume and Issue: 17(2), P. 363 - 363

Published: Jan. 20, 2025

Background: The Mediterranean diet (MedD) exerts anti-inflammatory and anti-oxidant effects that are beneficial in autoimmune thyroid diseases (ATD). Recently, a gluten-free (GFD) has been proposed for non-celiac patients with Hashimoto’s thyroiditis (HT), but its usefulness is under debate. present pilot study evaluates the of these two dietary regimes, focus on redox homeostasis, HT. Patients Methods: 45 euthyroid HT (30 F; median age 42 years) were randomly assigned to different regimes: MedD (n = 15), GFD 15) free (FD, n 15). Thyroid function tests, autoantibodies, oxidative stress markers (Advanced glycation end products, AGEs; glutathione peroxidase (GPx), thioredoxin reductase (TRxR), total plasma antioxidant activity (TEAA) measured at baseline after 12 weeks. Results: In group, significantly lower values AGEs higher GPX, TRX TEAA action detected (p < 0.05) weeks compared baseline, FD groups, which parameters did not change > 0.05). No significant differences serum levels TSH, FT4, Ab-Tg, Ab-TPO found any group. Conclusions: This confirms protective effect against stress, while does influence and/or autoimmunity/function parameters.

Language: Английский

Citations

0
Multi-metal mixture exposure and cognitive function in urban older adults: The mediation effects of thyroid hormones DOI Creative Commons
Zhuoqi Zhu,

Juanhua Li,

Peng Yang

et al.

Ecotoxicology and Environmental Safety, Journal Year: 2025, Volume and Issue: 290, P. 117768 - 117768

Published: Jan. 1, 2025

Language: Английский

Citations

0
Serum CD5L Responds Positively to Selenium and Coenzyme Q10 Supplementation with Relation to Thyroid Hormones, Mortality, and Health-Related Quality-of-Life—A Sub-Analysis of a Double-Blind Randomised Placebo-Controlled Trial in Elderly Low in Selenium DOI Creative Commons
Urban Alehagen, Jan Aaseth, Trine B. Opstad

et al.

Antioxidants, Journal Year: 2025, Volume and Issue: 14(3), P. 366 - 366

Published: March 20, 2025

The Cluster of Differentiation 5-like protein (CD5L) is produced by tissue-resident macrophages. It an innate immune mediator with a multitude functions, such as binding invading microorganisms and oxidised LDL, it associated clinical conditions, i.e., atherosclerosis inflammation. circulating CD5L level has been reported to correlate selenium status thyroid hormone activity. In order test this hypothesis, we analysed in serum samples from randomized controlled trial (RCT) coenzyme Q10 supplementation examined associations between hormones, health-related quality-of-life (Hr-QoL), mortality elderly population low selenium. Circulating levels hormones were determined 359 community-living individuals enrolled RCT at inclusion after 48 months (179 received Q10, 180 placebo). Hr-QoL was recorded both time-points using Short Form 36. Pre-intervention plasma low, mean 67 µg/L. correlated positively free tri-iodothyronine (fT3) showed inverse relation stimulating (TSH). Low concentrations the placebo group increased cardiovascular during 10 years follow-up, impaired months. Selenium significantly fT3 levels, association better health outcome. data indicate that responds supplementation, correlates status, associates positive indices. observed effect may be due selenium-dependent deiodinase isozyme expression converts thyroxine (T4) T3 locally supports activities. Whether are direct or local activity unclear should further investigated.

Language: Английский

Citations

0
Circulating Glutathione Peroxidase-3 in Elderly—Association with Renal Function, Cardiovascular Mortality, and Impact of Selenium and Coenzyme Q10 Supplementation DOI Creative Commons
Jan Alexander, Jan Aaseth, Lutz Schomburg

et al.

Antioxidants, Journal Year: 2024, Volume and Issue: 13(12), P. 1566 - 1566

Published: Dec. 19, 2024

Low-selenium status was associated with impaired renal function, which improved after selenium and coenzyme Q10 supplementation in an RCT. Here, we evaluated serum glutathione peroxidase-3 (GPx3) its relation to selenium, selenoprotein P (SELENOP), mortality, the impact of supplementation, are all important, especially elderly individuals. In total, 383 study participants (197 receiving yeast 186 on a placebo) were evaluated. We applied benchmark dose modelling determine GPx3 saturation, ANCOVA, Kaplan–Meier, multivariate Cox proportional regression analyses for mortality evaluations. Selenium activity modestly correlated. comparison SELENOP, levelled off at much lower value, 100 vs. 150 µg Se/L. but not SELENOP. Supplementation increased glomerular function by ≈23% increase GPx3. Being low displayed twice risks both placebos active treatments. At <100 µg/L, dependent function. As is reduced elderly, appropriate marker status. Low risk independent

Language: Английский

Citations

0
A novel frameshift mutation in ADCK1 identified in a case of chronic fatigue syndrome successfully treated with oral 5-ALA/SFC DOI Creative Commons
Tomohiro Koga, Kiyoshi Kita, Junko Okumura

et al.

Immunological Medicine, Journal Year: 2024, Volume and Issue: unknown, P. 1 - 5

Published: Dec. 26, 2024

Chronic Fatigue Syndrome (CFS) is a complex disorder characterized by prolonged, unexplained fatigue and challenging diagnosis. We report the case of 35-year-old Japanese woman with CFS who had experienced chronic since age 11 years. Despite treatment modafinil, methylphenidate, levocarnitine, ubiquinone, symptoms persisted. Introduction oral 5-aminolevulinic acid sodium ferrous citrate (5-ALA/SFC) led to significant improvements in daily activities, mobility, psychosocial functioning. Genetic analysis revealed novel heterozygous frameshift deletion ADCK1 (p.Asn280fs), gene related mitochondrial function, which was confirmed using cDNA sequencing. deficiency has been associated developmental disabilities, dysfunction, increased reactive oxygen species levels, apoptosis Drosophila muscle cells. This supports hypothesis that mutations contribute dysfunction pathogenesis. The patient's clinical improvement 5-ALA/SFC ubiquinone suggests their potential for addressing dysfunction. Further functional familial analyses are required confirm role this mutation CFS. highlights importance considering CFS, therapeutic benefits ubiquinone.

Language: Английский

Citations

0