Frontiers in Understanding the Pathological Mechanism of Diabetic Retinopathy
Med Sci Monit. 2023 Jun 12;29:e939658. doi: 10.12659/MSM.939658. ABSTRACT The retina is a light-sensitive membrane responsible for optical signal reception and concatenation with the optic nerve. Retinal damage causes blurred vision or visual dysfunction. Diabetic retinopathy (DR) is a common microvascular complication of diabetes mellitus (DM) that is induced by the interaction of multiple factors […]
Role of A-Kinase Anchoring Protein 1 in Retinal Ganglion Cells: Neurodegeneration and Neuroprotection
Cells. 2023 Jun 3;12(11):1539. doi: 10.3390/cells12111539. ABSTRACT A-Kinase anchoring protein 1 (AKAP1) is a multifunctional mitochondrial scaffold protein that regulates mitochondrial dynamics, bioenergetics, and calcium homeostasis by anchoring several proteins, including protein kinase A, to the outer mitochondrial membrane. Glaucoma is a complex, multifactorial disease characterized by a slow and progressive degeneration of the optic […]
Multimodal single-cell analysis of non-random heteroplasmy distribution in human retinal mitochondrial disease
JCI Insight. 2023 Jun 8:e165937. doi: 10.1172/jci.insight.165937. Online ahead of print. ABSTRACT Variants within the high copy number mitochondrial genome (mtDNA) can disrupt organelle function and lead to severe multi-system disease. The wide range of manifestations observed in mitochondrial disease patients results from varying fractions of abnormal mtDNA molecules in different cells and tissues, a […]
Akkermansia muciniphila-Nlrp3 is involved in the neuroprotection of phosphoglycerate mutase 5 deficiency in traumatic brain injury mice
Front Immunol. 2023 May 23;14:1172710. doi: 10.3389/fimmu.2023.1172710. eCollection 2023. ABSTRACT INTRODUCTION: Gut-microbiota-brain axis is a potential treatment to decrease the risk of chronic traumatic encephalopathy following traumatic brain injury (TBI). Phosphoglycerate mutase 5 (PGAM5), a mitochondrial serine/threonine protein phosphatase, resides in mitochondrial membrane and regulates mitochondrial homeostasis and metabolism. Mitochondria mediates intestinal barrier and gut […]
Phosphoribosylpyrophosphate Synthetase Deficiency
2008 Oct 21 [updated 2023 Jun 8]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. ABSTRACT CLINICAL CHARACTERISTICS: Phosphoribosylpyrophosphate synthetase (PRS) deficiency, an X-linked disorder, is a phenotypic continuum comprising three disorders previously thought to be clinically distinct: […]
Do astrocytes respond to light, sound, or electrical stimulation?
Neural Regen Res. 2023 Nov;18(11):2343-2347. doi: 10.4103/1673-5374.371343. ABSTRACT Astrocytes are not only the most populous cell type in the human brain, but they also have the most extensive and diverse sets of connections, across synapses, axons, blood vessels, as well as having their own internal network. Unsurprisingly, they are associated with many brain functions; from […]
Association of mitochondrial DNA variation with high myopia in a Han Chinese population
Mol Genet Genomics. 2023 Jun 5. doi: 10.1007/s00438-023-02036-y. Online ahead of print. ABSTRACT High myopia (HM), which is characterized by oxidative stress, is one of the leading causes of visual impairment and blindness across the world. Family and population genetic studies have uncovered nuclear-genome variants in proteins functioned in the mitochondria. However, whether mitochondrial DNA […]
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 […]