نتایج جستجو برای: mitochondrial disorders

تعداد نتایج: 792831  

Journal: :Chang Gung medical journal 2009
Shaw-Hwa Jou Nan-Yin Chiu Chin-San Liu

Mitochondria are intracellular organelles crucial in the production of cellular energy. Mitochondrial diseases may result from malfunctions in this biochemical cascade. Several investigators have proposed that mitochondrial dysfunction is related to the pathophysiology of bipolar disorder (BD), major depressive disorder (MDD) and schizophrenia (SZ). The authors reviewed recent study findings an...

2012
Laura Vilarinho

Mitochondria are dynamic subcellular organelles present in virtually all eukaryotic cells with numerous functions. The most important of these functions is production of ATP; however they play an important role in various metabolic and developmental processes such as calcium homeostasis, apoptosis and programmed cell death, just to mention some. Mitochondria produce ATP by means of the mitochon...

Journal: :Drug and chemical toxicology 2010
Josef Finsterer Liane Segall

OBJECTIVES Treatment of mitochondrial disorders (MIDs) is a challenge, since there is no causal therapy available and since there are few studies available, which demonstrate an effect of any agents offered for symptomatic or supportive therapy. Treatment of MIDs is based on five main columns, including symptomatic measures, application of supportive agents, dietary measures, physiotherapy, and...

2013
Jana Hroudová Jiří Raboch

Depression is a serious mental disorder manifested by depressed mood, pessimistic thoughts, feelings of worthlessness, feelings of guilt, tearfulness, reduced or increased sleep, appetite loss or appetite disturbance, weight loss or weight gain, social restlessness, loss of interest, difficulty concentrating. Mania is characterized by abnormally elevated or irritable mood, arousal, and/or energ...

2015
Vaibav Saxena

Due to the close proximity of the mitochondrial genome to the respiratory chain complex producing ATP, it is believed to be more susceptible to get damaged by the reactive oxygen species (ROS) than nuclear DNA. In addition to this, the poorly developed mitochondrial DNA (mtDNA) repair machinery and the lack of protective histones, unlike in nuclear genome are also believed to be the major facto...

2013
Andrew M. Schaefer Mark Walker Douglass M. Turnbull Robert W. Taylor

Endocrine dysfunction in mitochondrial disease is commonplace, but predominantly restricted to disease of the endocrine pancreas resulting in diabetes mellitus. Other endocrine manifestations occur, but are relatively rare by comparison. In mitochondrial disease, neuromuscular symptoms often dominate the clinical phenotype, but it is of paramount importance to appreciate the multi-system nature...

Journal: :Biochimica et biophysica acta 2004
Agnès Rötig Sophie Lebon Elena Zinovieva Julie Mollet Emmanuelle Sarzi Jean-Paul Bonnefont Arnold Munnich

The mitochondrial respiratory chain (RC) results from the expression of both mitochondrial and nuclear genes. The number of disease-causing mutations in nuclear genes is steadily growing and mitochondrial DNA (mtDNA) deletions and mutations account for no more than 15-20% of pediatric patients. Unfortunately, the disease-causing mutations have been identified for only a small number of patients...

Journal: :Biochemical Society transactions 2007
M Baron A P Kudin W S Kunz

There is compelling evidence for the direct involvement of mitochondria in certain neurodegenerative disorders, such as Morbus Parkinson, FRDA (Friedreich's ataxia), ALS (amyotrophic lateral sclerosis), and temporal lobe epilepsy with Ammon's horn sclerosis. This evidence includes the direct genetic evidence of pathogenic mutations in mitochondrial proteins in inherited Parkinsonism {such as PA...

Journal: :Singapore medical journal 2015
Josef Finsterer Marlies Frank

INTRODUCTION This study aimed to assess the kind of haematological abnormalities that are present in patients with mitochondrial disorders (MIDs) and the frequency of their occurrence. METHODS The blood cell counts of a cohort of patients with syndromic and non-syndromic MIDs were retrospectively reviewed. MIDs were classified as 'definite', 'probable' or 'possible' according to clinical pres...

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