Abstract:
:Mitochondrial dysfunction is observed in brains of Alzheimer's Disease patients as well as many rodent model systems including those modeling mutations in preseinilin 1 (PSEN1). The aim of our study was to characterize mitochondrial function and number in fibroblasts from AD patients with PSEN1 mutations. We used biochemical assays, metabolic profiling and fluorescent labeling to assess mitochondrial number and function in fibroblasts from three AD patients compared to fibroblasts from three controls. The mutant AD fibroblasts had increased Aβ42 relative to controls along with reduction in ATP, basal and maximal mitochondrial respiration as well as impaired spare mitochondrial respiratory capacity. Fluorescent staining and expression of genes encoding electron transport chain enzymes showed diminished mitochondrial content in the AD fibroblasts. This study demonstrates that mitochondrial dysfunction is observable in AD fibroblasts and provides evidence that this model system could be useful as a tool to screen disease-modifying compounds.
journal_name
Metab Brain Disjournal_title
Metabolic brain diseaseauthors
Gray NE,Quinn JFdoi
10.1007/s11011-015-9667-zsubject
Has Abstractpub_date
2015-10-01 00:00:00pages
1275-8issue
5eissn
0885-7490issn
1573-7365journal_volume
30pub_type
杂志文章abstract::A structured analytic approach was developed to evaluate enzyme kinetic parameters using non-linear least-squares fitting. The approach was implemented in a software package called KinSim and designed to run on Windows 95, 98, and NT platforms. The software and the theoretical approach were tested using kinetic data o...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/BF02679980
更新日期:2000-06-01 00:00:00
abstract::The synthesis, storage and release of acetylcholine (ACh) requires the expression of several specialized proteins, including choline acetyltransferase (ChAT) and the vesicular ACh transporter (VAChT). The VAChT gene is located within the first intron of the ChAT gene. This unique genomic organization permits coordinat...
journal_title:Metabolic brain disease
pub_type: 杂志文章,评审
doi:10.1007/BF02680013
更新日期:2000-03-01 00:00:00
abstract::D-galactose (GAL) causes aging-related changes and oxidative stress in the organism. We investigated the effect of whole fresh blueberry (BB) (Vaccinium corymbosum L.) treatment on oxidative stress in age-related brain damage model. Rats received GAL (300 mg/kg; s.c.; 5 days per week) alone or together with 5 % (BB1) ...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-014-9643-z
更新日期:2015-06-01 00:00:00
abstract::Susceptibility to Wilson's disease (WD) and its clinical manifestations are thought to be affected by genetic factors, including polymorphisms. The role of brain-derived neurotrophic factor (BDNF) in the pathogenesis of neurodegenerative diseases is now widely discussed. The aim of the present study was to evaluate th...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-013-9399-x
更新日期:2013-09-01 00:00:00
abstract::To investigate the short-term brain activity changes in cirrhotic patients with Liver transplantation (LT) using resting-state functional MRI (fMRI) with regional homogeneity (ReHo) method. Twenty-six cirrhotic patients as transplant candidates and 26 healthy controls were included in this study. The assessment was re...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-015-9657-1
更新日期:2015-08-01 00:00:00
abstract::Prenatal stress has been associated with increased vulnerability to psychiatric disturbances including schizophrenia, depression, attention-deficit hyperactivity disorder and autism. Elevated maternal circulating stress hormones alter development of neural circuits in the fetal brain and cause long-term changes in beh...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-009-9161-6
更新日期:2009-12-01 00:00:00
abstract::Betanin, a natural food colorant with powerful antioxidative properties, has not been studied in terms of neurodegenerative disease intervention. Therefore, the present study aimed to investigate the neuroprotective effects of betanin against trimethyltin chloride (TMT) -induced neurodegeneration in mice. Forty male I...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-020-00615-1
更新日期:2020-12-01 00:00:00
abstract::Ischemic postconditioning (IPostC) has been reported to have neuroprotection against ischemic diseases, and one cycle of IPostC induces neurogenesis when treated nearby. To expanding these effects, we explored the effects of repetitively remote IPostC (NRIPostC) on neurogenesis in the subgranular zone (SGZ) and subent...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-017-0068-3
更新日期:2017-12-01 00:00:00
abstract::To investigate the pattern of brain volume changes in patients with end-stage renal disease (ESRD) using voxel-based morphometry (VBM) and correlation with clinical and neuropsychological (NP) tests. Fifty seven ESRD patients with no anatomical abnormalities in conventional magnetic resonance imaging [24 patients with...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-013-9438-7
更新日期:2013-12-01 00:00:00
abstract::In Alzheimer's disease (AD) basal forebrain cholinergic neurons appear to be targeted primarily in early stages of the disease. Scopolamine (muscarinic receptor antagonist) has been used for decades to induce working and reference memory impairment in rodents. In this study, we evaluated the protective effect of kolav...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-016-9902-2
更新日期:2017-02-01 00:00:00
abstract::D-Galactose (D-gal) chronic administration via intraperitoneal and subcutaneous routes has been used as a model of aging and Alzheimer disease in rodents. Intraperitoneal and subcutaneous administration of D-gal causes memory impairments, a reduction in the neurogenesis of adult mice, an increase in the levels of the ...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-017-9972-9
更新日期:2017-06-01 00:00:00
abstract::Applying different technologies to monitor disease activity and treatment efficacy are essential in a complex disease such as multiple sclerosis. Combining current assays with flow cytometry could create a powerful tool for such analyses. The cell surface expression level of CD74, the MHC class II invariant chain, is ...
journal_title:Metabolic brain disease
pub_type: 杂志文章,评审
doi:10.1007/s11011-014-9634-0
更新日期:2015-08-01 00:00:00
abstract::Menkes disease is a very rare X-linked copper metabolism disorder that results from an ATP7A gene mutation. With the advent of subcutaneous copper-histidine therapy, the early diagnosis of Menkes disease becomes of utmost importance for patients' prognosis. In the present study, the clinical characteristics of 12 Kore...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-014-9569-5
更新日期:2015-02-01 00:00:00
abstract::MRPS22 gene defect is a very rare newly discovered mitochondrial disorder. We report a 4-month-old severely affected male infant with MRPS22 mutation. Whole exome sequencing revealed a novel homozygous splicing mutation c.339 + 5 G > A in MRPS22 gene. He has mild dysmorphism, hypotonia, developmental delay but not hyp...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-017-0074-5
更新日期:2017-10-01 00:00:00
abstract::Chronic liver disease (CLD) leads to a spectrum of neuropsychiatric disorders named hepatic encephalopathy (HE). Even though brain energy metabolism is believed to be altered in chronic HE, few studies have explored energy metabolism in CLD-induced HE, and their findings were inconsistent. The aim of this study was to...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-015-9715-8
更新日期:2016-12-01 00:00:00
abstract::The original article contains mistake. The authors want to add Wenhui Pei as first co-author and Fang Fang as co-corresponding author. ...
journal_title:Metabolic brain disease
pub_type: 已发布勘误
doi:10.1007/s11011-020-00612-4
更新日期:2020-12-01 00:00:00
abstract::Traumatic brain injury (TBI) results in severe neurological impairments without effective treatments. Inflammation appears to be an important contributor to key pathogenic events such as secondary brain injury following TBI and therefore serves as a promising target for novel therapies. We have recently demonstrated t...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-017-9991-6
更新日期:2017-10-01 00:00:00
abstract::Transient cerebral ischemia causes long-lasting inhibition of protein synthesis despite recovery of energy metabolism. We investigated the question if this inhibition is due to the formation of a suppression factor which interferes with the function of the protein synthesizing machinery. For this purpose rats were sub...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/BF01001061
更新日期:1993-12-01 00:00:00
abstract::Tissue methylmalonic acid (MMA) accumulation is the biochemical hallmark of methylmalonic acidemia. Clinically, the disease is characterized by progressive neurological deterioration and renal failure, whose pathophysiology is still undefined. In the present study we investigated the effect of acute MMA administration...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-013-9396-0
更新日期:2013-09-01 00:00:00
abstract::Spontaneous intracerebral hemorrhage (ICH) represents a partially-understood cerebrovascular disease of high incidence, morbidity and mortality. We, herein, report the findings of our study concerning the role of two important adenosinetriphosphatases (ATPases) in a porcine model of spontaneous ICH that we have recent...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-013-9380-8
更新日期:2013-09-01 00:00:00
abstract::The cholesterol-raising properties of the apolipoprotein E (APOE) epsilon-4 (ε-4) allele has been validated in the South African population. Mounting evidence supports the added value of APOE genotyping for the evaluation of cardiovascular risk in dyslipidemic patients beyond its established role in the diagnosis of l...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-015-9737-2
更新日期:2016-02-01 00:00:00
abstract::Long-term or excessive application of morphine leads to tolerance and addiction, which hindered its conventional applications as a drug. Although tremendous progress has been made on the mechanisms of morphine, crucial evidence elaborating the neurobiological basis of tolerance and dependence is still lacking. To furt...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-014-9638-9
更新日期:2015-06-01 00:00:00
abstract::High plasma levels of methionine (Met) and its metabolites such as methionine sulfoxide (MetO) may occur in several genetic abnormalities. Patients with hypermethioninemia can present neurological dysfunction; however, the neurotoxicity mechanisms induced by these amino acids remain unknown. The aim of the present wor...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-017-0054-9
更新日期:2017-10-01 00:00:00
abstract::Central pontine myelinolysis (CPM) is a demyelinating condition affecting not only the pontine base, but also involving other brain areas. It usually occurs on a background of chronic systemic illness, and is commonly observed in individuals with alcoholism, malnutrition and liver disease. Studies carried out 25-30 ye...
journal_title:Metabolic brain disease
pub_type: 历史文章,杂志文章
doi:10.1007/s11011-010-9175-0
更新日期:2010-03-01 00:00:00
abstract::Antipsychotics, such as risperidone, increase food intake and induce alteration in glucose and lipid metabolism concomitantly with overweight and body fat increase, these biological abnormalities belong to the metabolic syndrome definition (high visceral adiposity, hypertriglyceridemia, hyperglycemia, low HDL-choleste...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-017-0133-y
更新日期:2018-02-01 00:00:00
abstract::A study evaluating zinc supplementation in patients with Alzheimer's disease yielded variable zinc plasma levels in spite of positive cognitive and physiological results. In an attempt to raise and sustain plasma zinc levels, a single patient was given 15 mg zinc/day with various combinations of vitamins. A sustained ...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-006-9023-4
更新日期:2006-09-01 00:00:00
abstract::Current data on the neurotrophic effects of steroid hormones suggest that, in brain and spinal cord regions containing receptor systems, steroids act at the level of RNA and protein synthesis to effect metabolic changes associated with nerve-cell survival, elaboration/maintenance of dendritic and axonal processes, syn...
journal_title:Metabolic brain disease
pub_type: 杂志文章,评审
doi:10.1007/BF01001350
更新日期:1988-03-01 00:00:00
abstract::Near infrared radiation (NIR) is known to penetrate and affect biological systems in multiple ways. Recently, a series of experimental studies suggested that low intensity NIR may protect neuronal cells against a wide range of insults that mimic diseases such as stroke, brain trauma and neurodegeneration. However, the...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-014-9515-6
更新日期:2015-04-01 00:00:00
abstract::Due to the high ability of cadmium to cross the blood-brain barrier, cadmium (Cd) causes severe neurological damages. Hence, the purpose of this study was to investigate the possible protective effect of Mangifera indica leaf extract (MLE) against Cd-induced neurotoxicity. Rats were divided into eight groups. Group 1 ...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-018-0222-6
更新日期:2018-08-01 00:00:00
abstract::Stroke is the leading cause of disability among adults as well as the 2nd leading cause of death globally. Ischemic stroke accounts for about 85% of strokes, and currently, tissue plasminogen activator (tPA), whose therapeutic window is limited to up to 4.5 h for the appropriate population, is the only FDA approved dr...
journal_title:Metabolic brain disease
pub_type: 杂志文章,评审
doi:10.1007/s11011-020-00573-8
更新日期:2020-08-01 00:00:00