Therapeutical Management and Drug Safety in Mitochondrial Diseases—Update 2020

Gruosso, F.; Montano, Vincenzo; Simoncini, Costanza; Siciliano, Gabriele; Mancuso, Michelangelo

doi:10.3390/jcm10010094

Cited by 6 publications

(3 citation statements)

References 77 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This could be further investigated in a longitudinal study. From the group of anticonvulsants, valproate in particular should be avoided in mitochondrial diseases [ 45 , 46 ]. Since this affects only a very small part of the study population, the possible influence on the biomarker levels, if any, should be small.…”

Section: Discussionmentioning

confidence: 99%

The Mitochondrial Biomarkers FGF-21 and GDF-15 in Patients with Episodic and Chronic Migraine

Burow

Haselier

Naegel

et al. 2021

Cells

View full text Add to dashboard Cite

Mitochondrial processes may play a role in the pathophysiology of migraine. Serum levels of two biomarkers, Fibroblast-growth-factor 21 (FGF-21) and Growth-differentiation-factor 15 (GDF-15), are typically elevated in patients with mitochondrial disorders. The study investigated whether the presence of migraine may influence FGF-21 and GDF-15 serum levels considering vascular and metabolic disorders as possible confounders. A cross-sectional study in two headache centers was conducted analyzing GDF-15 and FGF-21 serum concentration in 230 patients with episodic and chronic migraine compared to a control group. Key clinical features of headache were evaluated, as well as health-related life quality, anxiety and depression using SF-12 and HADS-questionnaires. Elevated GDF-15 values were detected in the migraine group compared to the control group (506.65 ± 275.87 pg/mL vs. 403.34 ± 173.29 pg/mL, p < 0.001, Mann–Whitney U test). A strong correlation between increasing age and higher GDF-15 levels was identified (p < 0.001, 95%-CI elevation of GDF-15 per year 5.246–10.850 pg/mL, multiple linear regression). Mean age was different between the groups, and this represents a confounding factor of the measurements. FGF-21 levels did not differ between migraine patients and controls (p = 0.635, Mann–Whitney U test) but were significantly influenced by increasing BMI (p = 0.030, multiple linear regression). Neither biomarker showed correlation with headache frequency. Higher FGF-21 levels were associated with a higher mean intensity of headache attacks, reduced health-related life quality and anxiety. When confounding factors were considered, increased serum levels of FGF-21 and GDF-15 were not detected in migraine patients. However, the results show an age-dependence of GDF-15 in migraine patients, and this should be considered in future studies. Similar findings apply to the relationship between FGF-21 and BMI. Previous studies that did not adjust for these factors should be interpreted with caution.

show abstract

Section: Discussionmentioning

confidence: 99%

The Mitochondrial Biomarkers FGF-21 and GDF-15 in Patients with Episodic and Chronic Migraine

Burow

Haselier

Naegel

et al. 2021

Cells

View full text Add to dashboard Cite

show abstract

“…Benzodiazepine [47,51] Gabapentin [47,51] Lacosamide [47,51] Lamotrigine [47,51] Levetiracetam [10,47,51] Oxcarbazepine [10,47,51] Peranpanel [46,47,51] Rufinamide [47,51] Stiripentol [10,47,51] Zonisamide [47,51] Valproic acid-contraindicated in POLG mutations [25,39,51] Vigabatrin-may need to be avoided in patients with mtDNA depletion syndromes [39] Topiramate-may worsen acidosis [39] Phenytoin * [50] Carbamazepine * [50] Phenobarbital * [50] Valproic acid [35] Phenobarbital [35] Lamotrigine [35] Phenytoin [35] Carbamazepine [35] Oxcarbazepine [35] Vigabatrin [35] Tiagabine [35] Gabapentin [35] Pregabalin [35] * Toxic effect on mitochondria outweighs the beneficial effect.…”

Section: Mitochondria-safe Aeds Aeds To Use Carefully Aeds Which Could Aggravate Myoclonusmentioning

confidence: 99%

Epilepsy in Mitochondrial Diseases—Current State of Knowledge on Aetiology and Treatment

2021

View full text Add to dashboard Cite

Mitochondrial diseases are a heterogeneous group of diseases resulting from energy deficit and reduced adenosine triphosphate (ATP) production due to impaired oxidative phosphorylation. The manifestation of mitochondrial disease is usually multi-organ. Epilepsy is one of the most common manifestations of diseases resulting from mitochondrial dysfunction, especially in children. The onset of epilepsy is associated with poor prognosis, while its treatment is very challenging, which further adversely affects the course of these disorders. Fortunately, our knowledge of mitochondrial diseases is still growing, which gives hope for patients to improve their condition in the future. The paper presents the pathophysiology, clinical picture and treatment options for epilepsy in patients with mitochondrial disease.

show abstract

“…Symptomatic treatment of mitochondrial disorders also includes organ-specific management, such as dialysis for renal dysfunction, ventilatory support, or surgical procedures [ 53 ]. Rarely, transplantation of organs such as the liver is the approach for treating severely affected patients [ 54 ].…”

Section: Tat-fusion Protein Delivery For Enzyme/protein Replacement Therapy (E/prt)mentioning

confidence: 99%

TAT for Enzyme/Protein Delivery to Restore or Destroy Cell Activity in Human Diseases

Lichtenstein

Zabit

Hauser

et al. 2021

Life

View full text Add to dashboard Cite

Much effort has been dedicated in the recent decades to find novel protein/enzyme-based therapies for human diseases, the major challenge of such therapies being the intracellular delivery and reaching sub-cellular organelles. One promising approach is the use of cell-penetrating peptides (CPPs) for delivering enzymes/proteins into cells. In this review, we describe the potential therapeutic usages of CPPs (mainly trans-activator of transcription protein, TAT) in enabling the uptake of biologically active proteins/enzymes needed in cases of protein/enzyme deficiency, concentrating on mitochondrial diseases and on the import of enzymes or peptides in order to destroy pathogenic cells, focusing on cancer cells.

show abstract

Therapeutical Management and Drug Safety in Mitochondrial Diseases—Update 2020

Cited by 6 publications

References 77 publications

The Mitochondrial Biomarkers FGF-21 and GDF-15 in Patients with Episodic and Chronic Migraine

The Mitochondrial Biomarkers FGF-21 and GDF-15 in Patients with Episodic and Chronic Migraine

Epilepsy in Mitochondrial Diseases—Current State of Knowledge on Aetiology and Treatment

TAT for Enzyme/Protein Delivery to Restore or Destroy Cell Activity in Human Diseases

Contact Info

Product

Resources

About