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ABSTRACT: Identification of gene mutations in six Chinese patients with maple syrup urine disease

PROVIDER: PRJNA918507 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR22979157_1.fastq.gz	Fastqsanger.gz
	SRR22979157_2.fastq.gz	Fastqsanger.gz
	SRR22979158_1.fastq.gz	Fastqsanger.gz
	SRR22979158_2.fastq.gz	Fastqsanger.gz
	SRR22979159_1.fastq.gz	Fastqsanger.gz

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Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy

2012-07-18 | GSE39447 | GEO

Epigenomic profiling of fibroblasts from patients with Maple Syrup Urine Disease (MSUD) or control samples

Project description:Maple syrup urine disease (MSUD) is a rare inherited metabolic disorder characterised by deficient activity of the branched-chain alpha-ketoacid dehydrogenase complex, required to metabolise the amino acids leucine, isoleucine and valine. Despite its profound metabolic implications, the molecular alterations underlying this metabolic impairment had not yet been elucidated. Here we performed a comprehensive epigenomic analysis including fibroblasts derived from a cohort of MSUD patients (9) and unaffected controls (5) using the Infinium HumanMethylation EPIC platform.

2024-12-31 | E-MTAB-13822 | biostudies-arrayexpress

Project description:Genetic studies of Maple syrup urine disease

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Liver-protecting Effect of Maple Syrup

Project description:Rats fed a 20%-maple syrup diet (maple syrup group) for 11 days showed significantly lower values of the hepatic function markers than those fed a 20%-sugar mix syrup diet (control) likewise. One reasons was suggested by DNA microarray analysis which revealed that the expression of genes for enzymes of ammonia production were down-regulated in the liver of maple syrup group. Rats were quarantined and conditioned by administration of the authentic AIN93G diet for 4 days. Rats had free access to the diet and drinking water during this preliminary feeding. For feeding tests, they were dichotomized (n = 7 and 8) for maple syrup and sugar mix syrup group, respectively, and then fed for 11 days on either the AIN93G diet containing 20% maple syrup or on the 20% sugar mix syrup with a similar sugar composition; the amount of maple syrup or the sugar mix syrup was arranged. Rats in both diet groups were fasted for 16 hours, prior to being anesthetically sacrificed for dissection.

2011-08-31 | E-GEOD-30532 | biostudies-arrayexpress

Liver-protecting Effect of Maple Syrup

2011-09-01 | GSE30532 | GEO

A maple syrup extract alleviates liver injury in type 2 diabetic model mice

Project description:A recent study showed that 54% of type 2 diabetes (T2D) patients have nonalcoholic fatty liver disease, which is a risk factor for aggravation diabetic symptoms. Previous studies suggested components in maple syrup alleviated liver injury and found polyphenols as food components to improve the symptoms and complications of diabetes. Therefore, we hypothesized that a polyphenol fraction in maple syrup improves the symptoms and complications of diabetes. To address the hypothesis, we investigated the effects of a polyphenol-rich maple syrup extract (MSE) on a T2D model mice. KK-Ay mice were fed a normal or 0.1% MSE-supplemented diet for 43 days. The results showed that the levels of serum alanine aminotransferase and aspartate aminotransferase were significantly reduced in mice that ingested MSE. Hepatic genes related to lipogenesis and lipolysis were down- and upregulated, respectively, in mice that ingested MSE. These results suggest that MSE intake alleviates liver injury and suppresses lipid accumulation in the livers of T2D mice.

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Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy

Project description:Autism is present in 1% of the population, yet treatments are extremely limited. We identified homozygous inactivating mutations in the BCKDK gene in families presenting with autism and epilepsy. The encoded branched chain ketoacid dehydrogenase kinase protein is responsible for phosphorylation-mediated inactivation of the E1-alpha subunit of branched chain ketoacid dehydrogenase, itself mutated in Maple Syrup Urine Disease (MSUD). Patients with homozygous BCKDK mutations display reductions in BCKDK mRNA and protein, E1-alpha phosphorylation and serum branched chain amino acids (BCAAs). Bckdk knockout mice show abnormal brain amino acids profiles and neurobehavioral defects, which are largely corrected by dietary BCAA supplementation. Thus autism presenting with epilepsy due to BCKDK mutations represent a new and potentially treatable disease. A 51 chip study that includes both human and mouse samples to investigate the expression changes that result in a mutation or knockout of the BCKDK gene. Starting with human fibroblasts from three affecteds and two controls, cells were converted into IPSs, then NPCs, and finally Neurons. Each of these cell types were used to view the expression changes between a cells with a BCKDK mutation versus controls. Finally, a mouse knockout was performed to verify consistency of the expression pattern differences between the BCKCK knockout and wild-type. Samples are labeled as Affected if the sample came from a patient with a BCKDK mutation and WildType otherwise. Samples were usually replicated once.

2012-07-17 | E-GEOD-39447 | biostudies-arrayexpress

Effect of maple syrup extract on the liver of mice fed a high-fat diet

Project description:The effects of the administration of maple syrup extract (MSX) on hepatic gene expression were investigated in mice fed high-fat diet.

2015-04-30 | GSE65667 | GEO

Effect of maple syrup extract high on the liver of mice fed a high-fat diet [III]

Project description:The effects of the administration of maple syrup extract (MSXH) on hepatic gene expression were investigated in mice fed high-fat diet.

2016-09-12 | GSE80628 | GEO

Effect of maple syrup extract high on the liver of mice fed a high-fat diet [II]

Project description:The effects of the administration of maple syrup extract (MSXH) on hepatic gene expression were investigated in mice fed high-fat diet.

2016-09-12 | GSE80627 | GEO

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