Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0015695 (fatty liver)
 13,941 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A diet containing cholesterol and cholic acid (SID) is known to induce the formation of cholesterol fatty liver as well as cholesterol gallstones. The activity of HMG-CoA reductase, one of the key enzymes for cholesterol synthesis in the liver, is significantly lowered by addition of beta-muricholic acid to SID. The prevention of fatty liver formation by beta-muricholic acid was accompanied by the suppression of HMG-CoA reductase activity.
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PMID:Suppression of hepatic HMG-CoA reductase activity by beta-muricholic acid in mice fed a diet containing cholesterol and cholic acid. 340 73

Mitochondrial fatty acid oxidation disorders (FAOD) are recessively inherited errors of metabolism. Newborns with FAOD typically present with hypoketotic hypoglycemia, metabolic acidosis, hepatic failure, and cardiomyopathy. Late presentations include episodic myopathy, neuropathy, retinopathy, and arrhythmias. Sudden unexpected death can occur at any age and can be confused with sudden infant death syndrome. Some FAOD are associated with intrauterine growth restriction, prematurity, and pregnancy complications in the heterozygous mother, such as severe preeclampsia, acute fatty liver of pregnancy (AFLP), or hemolysis, elevated liver enzymes, and low platelets (HELLP) syndrome. Maternal pregnancy complications occur primarily in mothers carrying a fetus with long-chain l-3-hydroxyacyl CoA dehydrogenase deficiency or general trifunctional protein deficiencies. FAOD as a group represent the most common inborn errors of metabolism, and presymptomatic diagnosis of FAOD is the key to reduce morbidity and avoid mortality. The application of tandem mass spectrometry to newborn screening provides an effective means to identify most FAOD patients presymptomatically. At the beginning of 2005, 36 state newborn screening programs have mandated or adopted this technology resulting in a marked increase in the number of asymptomatic neonates with FAOD diagnosed. To ensure the long-term benefits of such screening programs, pediatricians and other health care providers must be educated about these disorders and their treatment.
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PMID:Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and management. 1581 98

Background Obesity and overweight are among the most common and serious health issues in many countries, leading to numerous medical consequences such as heart disease, hypertension, fatty liver etc. This review article addressed the prevalence of obesity and overweight in Iranian students by using meta-analysis. Methods A number of domestic and international databases were searched, including IranMedex, Magiran, SID, Scopus, PubMed, IranDoc, Web of Science and Google Scholar. Eligible publications were 160 articles that addressed the prevalence of obesity or overweight. Data were combined using random effects model. Heterogeneity of the studies was examined by Q statistics and the I2 index. Data were analyzed using STATA version 11.1. Results In the 160 reviewed studies, a total of 481,070 individuals (6-20 years) were included. The prevalence of obesity among Iranian students based on body mass index (BMI) was 11% (95% confidence interval [CI]: 10%-12%) (in girls 8% [95% CI: 7%-10%] and in boys 11% [95% CI: 10%-13%]). The prevalence of overweight in students based on BMI was 12% (95% CI: 12%-13%) (in girls 13% [95% CI: 11%-14%] and in boys 11% [95% CI: 18%-30%]). The rate of obesity was 13% (95% CI: 11%-16%) in elementary school students, 10% (95% CI: 7%-14%) in secondary school students and 7% (95% CI: 6%-9%) in high school students. Conclusions The prevalence rate of overweight was more than that of obesity with a 1% difference. The prevalence of obesity was higher in boys, while the prevalence of overweight was higher in girls. The prevalence of obesity was higher in primary school students than in secondary school students. This prevalence was higher in secondary school students than in high school students.
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PMID:Prevalence of obesity and overweight in Iranian students: a systematic review and meta-analysis. 3212 15

Fatty acid oxidation disorders unfortunately can result in the sudden unexplained death of infants. Mitochondrial trifunctional protein (MTP) deficiency is one such disease where long-chain fatty acids cannot be fully oxidized through beta-oxidation which, can lead to cardiac arrythmias in an infant. Furthermore, mothers who are carrying an MTP deficient fetus have a prevalence for pregnancy complications, especially AFLP, acute fatty liver of pregnancy and HELLP syndrome. To better understand the etiology of the potential pro-arrhythmic state the MTP deficient infants may enter, we developed an in vitro model of MTP deficiency in cardiomyocytes to elucidate the underpinning molecular mechanism of this disease. Using CRISPR/Cas9, we developed MTP deficient mutant and knockout pluripotent stem cell lines. Furthermore, we generated patient derived induced pluripotent stem cell lines harboring a so-called founder mutation, the most commonly identified alteration in MTP in the population. Upon differentiating these mutant stem cells into cardiomyocytes and then challenging with fatty acids, we observed pro-arrhythmic behavior, depressed mitochondrial energetics, and elevated hydroxylated long-chain fatty acids, all perhaps expected phenotypes due to MTP deficiency. However, unexpectedly, we also identified an inability of these disease cardiomyocytes to generate mature cardiolipin. Cardiolipin is a key pillar of the powerhouse of life, mitochondria. For the first time this disease-in-a-dish model revealed the key culprit for the dramatic MTP mutant mitochondrial defects and identified potentially a second role for the enzyme HADHA in MTP. HADHA is required for the biosynthesis of functional cardiolipin and therefore healthy mitochondria. However, in the disease, defective cardiolipin results in mitochondrial abnormalities and cardiac arrythmias in infants. These studies reveal an important target for sudden infant death syndrome therapy. With this foundational work on an in vitro model of MTP deficiency and potential avenues for therapy, the next important task is to extend this model to address fetal-maternal interactions towards better governing maternal health.
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PMID:Using Mitochondrial Trifunctional Protein Deficiency to Understand Maternal Health. 3299 60