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Total 83 results found since Jan 2013.

Successful Glycemic Control Decreases the Elevated Serum FGF21 Level without Affecting Normal Serum GDF15 Levels in a Patient with Mitochondrial Diabetes.
Abstract Mitochondrial diabetes mellitus is a subtype of diabetes linked to mutations in mitochondrial DNA. In patients with mitochondrial diabetes mellitus, the effect of glycemic control on the serum concentrations of fibroblast growth factor 21 (FGF21) and growth differentiation factor 15 (GDF15) has not been evaluated. FGF21 and GDF15 have been reported to be useful biomarkers for the diagnosis and severity assessment of mitochondrial diseases like mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Recent studies have shown FGF21 acts in an endocrine fashion to regulate ...
Source: The Tohoku Journal of Experimental Medicine - May 25, 2016 Category: Research Authors: Murakami T, Ueba Y, Shinoto Y, Koga Y, Kaneda D, Hatoko T, Kato T, Yonemitsu S, Muro S, Oki S Tags: Tohoku J Exp Med Source Type: research

Mitochondria: Inadvertent targets in chemotherapy-induced skeletal muscle toxicity and wasting?
Abstract Chemotherapy has been associated with increased mitochondrial reactive oxygen species production, mitochondrial dysfunction and skeletal muscle atrophy leading to severe patient clinical complications including skeletal muscle fatigue, insulin resistance and wasting. The exact mechanisms behind this skeletal muscle toxicity are largely unknown, and as such co-therapies to attenuate chemotherapy-induced side effects are lacking. Here, we review the current literature describing the clinical manifestations and molecular origins of chemotherapy-induced myopathy with a focus on the mitochondria as the target ...
Source: Cancer Chemotherapy and Pharmacology - May 10, 2016 Category: Cancer & Oncology Source Type: research

Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4.
We report our clinical experience on two unrelated Turkish patients with congenital generalized lipodystrophy type 4. A 13-year-old girl (patient-1) presented with generalized lipodystrophy and myopathy. Further tests revealed ventricular and supraventricular arrhythmias, gastrointestinal dysmotility, atlantoaxial instability, lumbosacral scoliosis, and metabolic abnormalities associated with insulin resistance. A 16-year-old girl (patient-2) with congenital generalized lipodystrophy type 4 was previously reported. Here, we report on her long term clinical follow-up. She received several course of anti-arrhythmic treatment...
Source: European Journal of Medical Genetics - May 6, 2016 Category: Genetics & Stem Cells Authors: Akinci G, Topaloglu H, Akinci B, Onay H, Karadeniz C, Ergul Y, Demir T, Ozcan EE, Altay C, Atik T, Garg A Tags: Eur J Med Genet Source Type: research

Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study from Turkey.
CONCLUSIONS: CGL patients from Turkey had both previously reported and novel mutations of the AGPAT2, BSCL2 and PTRF genes. Our study highlights the early onset of severe metabolic abnormalities and increased risk of end-organ complications in patients with CGL. PMID: 27144933 [PubMed - as supplied by publisher]
Source: The Journal of Clinical Endocrinology and Metabolism - May 3, 2016 Category: Endocrinology Authors: Akinci B, Onay H, Demir T, Ozen S, Kayserili H, Akinci G, Nur B, Tuysuz B, Nuri Ozbek M, Gungor A, Yildirim Simsir I, Altay C, Demir L, Simsek E, Atmaca M, Topaloglu H, Bilen H, Atmaca H, Atik T, Cavdar U, Altunoglu U, Aslanger A, Mihci E, Secil M, Saygil Tags: J Clin Endocrinol Metab Source Type: research

Early Onset of Diabetes Mellitus Accelerates Cognitive Decline in Japanese Patients with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes.
Abstract Approximately 80% of patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) carry the A3243G mutation in the mitochondrial tRNALeu (UUR) gene. Conversely, this mutation has also been identified as one of the most prevalent genetic abnormalities in patients with diabetes mellitus. Mitochondrial diabetes mellitus complicated with MELAS is relatively common, and 12.5% of patients with the A3243G mutation develop MELAS after being diagnosed with diabetes mellitus. However, the clinical impact of diabetes mellitus in MELAS patients remains unclear. Therefore, we...
Source: The Tohoku Journal of Experimental Medicine - April 13, 2016 Category: Research Authors: Murakami T, Shinoto Y, Yonemitsu S, Muro S, Oki S, Koga Y, Goto Y, Kaneda D Tags: Tohoku J Exp Med Source Type: research

Pyruvate improved insulin secretion status in a mitochondrial diabetes mellitus patient.
CONCLUSIONS: Sodium pyruvate improved insulin secretion and resulted in decreased TDD in a patient with mitochondrial diabetes. Pyruvate therapy may be a potential therapeutic choice for patients with mitochondrial diabetes. Clinical trials involving a larger number of patients and long-term evaluation of the therapy are necessary to clarify the efficacy of pyruvate therapy. Secondary Abstract: Oral sodium pyruvate (0.5 g/kg, thrice/day) improved insulin secretion and decreased total daily insulin dose in a patient with mitochondrial diabetes caused by m.14709T>C mutation. PMID: 26885883 [PubMed - as supplied by publisher]
Source: The Journal of Clinical Endocrinology and Metabolism - February 17, 2016 Category: Endocrinology Authors: Inoue T, Murakami N, Ayabe T, Oto Y, Nishino I, Goto YI, Koga Y, Sakuta R Tags: J Clin Endocrinol Metab Source Type: research

Low prevalence of patients with mitochondrial disease in the German/Austrian DPV diabetes registry
Conclusion: Primary mitochondrial disorders are a rare cause of juvenile diabetes and likely to be underdiagnosed. As there is clinical overlap with T1D and T2D, dyslipidemia and low body weight may help to identify further DMO cases. What is Known: • In adults diabetes of mitochondrial origin (DMO) is a rare cause of non-autoimmune diabetes, affecting about 0.8 % of diabetes cases. • Common features are a maternal family history of diabetes, hearing loss and neurological abnorma...
Source: European Journal of Pediatrics - December 15, 2015 Category: Pediatrics Source Type: research

Diabetes in the young - a case of Alström syndrome with myopathy.
In this report, we describe a patient with features of Alström syndrome and a clinical picture suggestive of a recurrent, severe, steroid responsive myopathy which, to the best of our knowledge, has not been reported so far. PMID: 25874828 [PubMed - in process]
Source: Journal of the Royal College of Physicians of Edinburgh - November 30, 2015 Category: Journals (General) Tags: J R Coll Physicians Edinb Source Type: research

Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations
Abstract Myopathy-lactic acidosis-sideroblastic anemia (MLASA) syndrome is a rare autosomal recessive disease. We studied a 43-year-old female presenting since childhood with mild cognitive impairment and sideroblastic anemia. She later developed hepatopathy, cardiomyopathy, and insulin-dependent diabetes. Muscle weakness appeared in adolescence and, at age 43, she was unable to walk. Two novel different mutations in the PUS1 gene were identified: c.487delA (p.I163Lfs*4) and c.884 G>A (p.R295Q). Quantitative analysis of DNA from skeletal muscle biopsies showed a significant increase in mitochondrial DNA (mtDNA...
Source: Neurogenetics - November 10, 2015 Category: Genetics & Stem Cells Source Type: research

Mifepristone Treatment of Cushing's Syndrome in a Pediatric Patient
In this report, we detail our clinical evaluation that confirmed CS caused by an ectopic adrenocorticotropic hormone secreting tumor. Surgical and radiation therapies were not pursued because of her poor functional status and limited life expectancy, and medical treatment of CS was indicated for symptom relief. Mifepristone treatment provided rapid improvement in glycemic control, insulin resistance, and hypertension as well as significant diminishment of her myopathy and fatigue. Hypokalemia was managed with an oral potassium replacement and dose escalation of spironolactone; no other significant adverse effects were obse...
Source: PEDIATRICS - November 2, 2015 Category: Pediatrics Authors: Banerjee, R. R., Marina, N., Katznelson, L., Feldman, B. J. Tags: Endocrinology Case Report Source Type: research

Global deletion of BCATm increases expression of skeletal muscle genes associated with protein turnover
Consumption of a protein-containing meal by a fasted animal promotes protein accretion in skeletal muscle, in part through leucine stimulation of protein synthesis and indirectly through repression of protein degradation mediated by its metabolite, α-ketoisocaproate. Mice lacking the mitochondrial branched-chain aminotransferase (BCATm/Bcat2), which interconverts leucine and α-ketoisocaproate, exhibit elevated protein turnover. Here, the transcriptomes of gastrocnemius muscle from BCATm knockout (KO) and wild-type mice were compared by next-generation RNA sequencing (RNA-Seq) to identify potential adaptations a...
Source: Physiological Genomics - November 1, 2015 Category: Genetics & Stem Cells Authors: Lynch, C. J., Kimball, S. R., Xu, Y., Salzberg, A. C., Kawasawa, Y. I. Tags: Nutrient Gene Interaction Source Type: research

Clinical review: intensive care unit acquired weakness
A substantial number of patients admitted to the ICU because of an acute illness, complicated surgery, severe trauma, or burn injury will develop a de novo form of muscle weakness during the ICU stay that is referred to as “intensive care unit acquired weakness” (ICUAW). This ICUAW evoked by critical illness can be due to axonal neuropathy, primary myopathy, or both. Underlying pathophysiological mechanisms comprise microvascular, electrical, metabolic, and bioenergetic alterations, interacting in a complex way and culminating in loss of muscle strength and/or muscle atrophy. ICUAW is typically symmetrical and affects ...
Source: Critical Care - August 5, 2015 Category: Intensive Care Authors: Greet HermansGreet Van den Berghe Source Type: research

Non-Neuromuscular Manifestations of Spinal and Bulbar Muscular Atrophy (P7.054)
CONCLUSIONS: These non-neuromuscular observations provide new insight into spinal and bulbar muscular atrophy and offer additional avenues for investigating the disease mechanism. Study Supported by:Disclosure: Dr. Bakar has nothing to disclose. Dr. Grunseich has nothing to disclose. Dr. Kats has nothing to disclose. Dr. Kokkinis has nothing to disclose. Dr. Schindler has nothing to disclose. Dr. Rinaldi has nothing to disclose. Dr. Fischbeck has nothing to disclose.
Source: Neurology - April 8, 2015 Category: Neurology Authors: Bakar, D., Grunseich, C., Kats, I., Kokkinis, A., Schindler, A., Rinaldi, C., Fischbeck, K. Tags: Neuromuscular Disease: Clinical Science Source Type: research

Promise(s) of using mesenchymal stem cells in reproductive disorders.
Abstract In recent times, infertility among both man and woman has become a major concern affecting about 20 per cent of the population worldwide and has been attributed in part to several aetiological factors such as changes in lifestyle, which includes sedentary life, dietary habits, sleep anomalies, environmental pollution, etc. Assisted reproductive technologies (ART) have come to the rescue of many such couples, but presence of metabolic disorders such as obesity, diabetes with insulin resistance (IR) and its secondary complications (micro- and macro-vascular complications), become confounders to the outcome ...
Source: Indian J Med Res - November 1, 2014 Category: Research Authors: Venkatesan V, Madhira SL Tags: Indian J Med Res Source Type: research

Inborn errors of cytoplasmic triglyceride metabolism
Abstract Triglyceride (TG) synthesis, storage, and degradation together constitute cytoplasmic TG metabolism (CTGM). CTGM is mostly studied in adipocytes, where starting from glycerol-3-phosphate and fatty acyl (FA)-coenzyme A (CoA), TGs are synthesized then stored in cytoplasmic lipid droplets. TG hydrolysis proceeds sequentially, producing FAs and glycerol. Several reactions of CTGM can be catalyzed by more than one enzyme, creating great potential for complex tissue-specific physiology. In adipose tissue, CTGM provides FA as a systemic energy source during fasting and is related to obesity. Inborn errors and mo...
Source: Journal of Inherited Metabolic Disease - October 10, 2014 Category: Internal Medicine Source Type: research