Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes
Front Genet. 2023 May 18;14:1182288. doi: 10.3389/fgene.2023.1182288. eCollection 2023. ABSTRACT Leber hereditary optic neuropathy is a primary mitochondrial disease characterized by acute visual loss due to the degeneration of retinal ganglion cells. In this study, we describe a patient carrying a rare missense heteroplasmic variant in MT-ND1, NC_012920.1:m.4135T>C (p.Tyr277His) manifesting with a typical bilateral painless […]
In vivo noninvasive mitochondrial redox assessment of the optic nerve head to predict disease
PNAS Nexus. 2023 May 2;2(5):pgad148. doi: 10.1093/pnasnexus/pgad148. eCollection 2023 May. ABSTRACT Eye diseases are diagnosed by visualizing often irreversible structural changes occurring late in disease progression, such as retinal ganglion cell loss in glaucoma. The retina and optic nerve head have high mitochondrial energy need. Early mitochondrial/energetics dysfunction may predict vulnerability to permanent structural changes. […]
Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling
Orphanet J Rare Dis. 2023 May 31;18(1):131. doi: 10.1186/s13023-023-02748-9. ABSTRACT BACKGROUND: Optic atrophy-13 with retinal and foveal abnormalities (OPA13) (MIM #165510) is a mitochondrial disease in which apparent bilateral optic atrophy is present and sometimes followed by retinal pigmentary changes or photoreceptors degeneration. OPA13 is caused by heterozygous mutation in the SSBP1 gene, associated with […]
Metformin protects against retinal ischemia/reperfusion injury through AMPK-mediated mitochondrial fusion
Free Radic Biol Med. 2023 May 28:S0891-5849(23)00435-5. doi: 10.1016/j.freeradbiomed.2023.05.019. Online ahead of print. ABSTRACT Retinal ischemia/reperfusion (I/R) injury is a common pathological process responsible for cellular damage in glaucoma, diabetic retinopathy and hypertensive retinopathy. Metformin is a biguanide drug that exerts strong effects on multiple diseases. This study aims to evaluate the protective effect of […]
Phosphoenolpyruvate carboxykinases as emerging targets in cancer therapy
Front Cell Dev Biol. 2023 May 12;11:1196226. doi: 10.3389/fcell.2023.1196226. eCollection 2023. ABSTRACT Metabolic reprogramming is commonly accompanied by alterations in the expression of metabolic enzymes. These metabolic enzymes not only catalyze the intracellular metabolic reaction, but also participate in a series of molecular events to regulate tumor initiation and development. Thus, these enzymes may act […]
11-epi-Sinulariolide Acetate-induced Apoptosis in Oral Cancer Cells Is Regulated by FOXO Through Inhibition of PI3K/AKT Pathway
Anticancer Res. 2023 Jun;43(6):2625-2634. doi: 10.21873/anticanres.16429. ABSTRACT BACKGROUND/AIM: Oral cancer is a general term for carcinomas that occur around the oral tissues, and most are squamous cell carcinoma. Oral cancer is a common disease among Taiwanese males and poses a great threat to national health owing to its high mortality rate. In this study, we […]
Is There a Role of Vitamin D in Alzheimer’s disease?
CNS Neurol Disord Drug Targets. 2023 May 26. doi: 10.2174/1871527322666230526164421. Online ahead of print. ABSTRACT Alzheimer’s disease (AD) represents the most prevalent type of neurodegenerative dementia and the sixth leading cause of death worldwide. The so-called “non-calcemic actions” of vitamin D have been increasingly described, and its insufficiency has already been linked to the onset […]
Healthcare resource utilization of patients with mitochondrial disease in an outpatient hospital setting
Orphanet J Rare Dis. 2023 May 29;18(1):129. doi: 10.1186/s13023-023-02746-x. ABSTRACT BACKGROUND AND OBJECTIVES: Mitochondrial diseases present as multi-system disorders requiring a comprehensive multidisciplinary approach. The data on healthcare resource utilization associated with mitochondrial diseases and the clinical drivers of these costs are limited including for the out-patient setting where the majority of the clinical care […]
Dysfunctional Autophagy, Proteostasis, and Mitochondria as a Prelude to Age-Related Macular Degeneration
Int J Mol Sci. 2023 May 15;24(10):8763. doi: 10.3390/ijms24108763. ABSTRACT Retinal pigment epithelial (RPE) cell dysfunction is a key driving force of AMD. RPE cells form a metabolic interface between photoreceptors and choriocapillaris, performing essential functions for retinal homeostasis. Through their multiple functions, RPE cells are constantly exposed to oxidative stress, which leads to the […]
CORM-A1 Alleviates Pro-Atherogenic Manifestations via miR-34a-5p Downregulation and an Improved Mitochondrial Function
Antioxidants (Basel). 2023 Apr 25;12(5):997. doi: 10.3390/antiox12050997. ABSTRACT Atherogenesis involves multiple cell types undergoing robust metabolic processes resulting in mitochondrial dysfunction, elevated reactive oxygen species (ROS), and consequent oxidative stress. Carbon monoxide (CO) has been recently explored for its anti-atherogenic potency; however, the effects of CO on ROS generation and mitochondrial dysfunction in atherosclerosis remain […]