Meiotic silencing by unpaired DNA (MSUD) is a process that detects unpaired regions between homologous chromosomes and silences them for the duration of sexual development. While the phenomenon of MSUD is well recognized, the process that detects unpaired DNA is poorly understood. In this report, we provide two lines of evidence linking unpaired DNA detection to a physical search for DNA homolo...

Newborn screening for MSUD is a special challenge since patients with MSUD can metabolically decompensate rapidly without adequate treatment within the first two weeks of life. However, the screening method does not detect the actual marker metabolite (alloisoleucine) specifically, but only as part of the group of the other isobaric amino acids leucine, isoleucine and hydroxyproline. We describ...

Maple syrup urine disease (MSUD) is predominantly caused by mutations in the BCKDHA, BCKDHB and DBT genes, which encode for the E1alpha, E1beta and E2 subunits of the branched-chain alpha-keto acid dehydrogenase complex, respectively. Because disease causing mutations play a major role in the development of the disease, prenatal diagnosis at gestational level may have significance in making dec...

Two RNA silencing-related phenomena, quelling and meiotic silencing by unpaired DNA (MSUD) have been identified in the fungus Neurospora crassa. Similar to the case with the siRNA and miRNA pathways in Drosophila, different sets of protein components including RNA-dependent RNA polymerase, argonaute and dicer, are used in the quelling and MSUD pathways. Orthologs of the RNA silencing components...

their keto acid derivatives, leading to metabolic encephalopathy and progressive neurodegeneration in untreated patients [1]. It has an estimated prevalence of 1 in 185,000 worldwide [1, 2] and of 1 in 230,000 in Korea [3]. Disease-causing mutations have been identified in the BCKDHA, BCKDHB, and DBT genes, which encode the E1α, E1β, and E2 subunits of the BCKDH complex, respectively [2]. MSUD ...

The filamentous ascomycete Bipolaris maydis is a plant pathogen that causes corn leaf blight and has been used in cytological studies of sexual reproduction. In this fungus, when null mutants each septin are crossed with the wild-type strain, all ascospores derived from same asci show abnormal morphology. phenomenon was remarkably similar to event known as “ascus dominance” Neurospora crassa , ...

Background: Maple syrup urine disease (MSUD) is an inborn error of metabolism resulting from the accumulation leucine, isoleucine and valine. The classic form more common, in which there are neurological signs symptoms, coma, death third or fifth day life. Treatment based on diet liver transplantation.

Maple syrup urine disease (MSUD) or branched-chain alpha-ketoaciduria is an autosomally inherited disorder in the catabolism of branched-chain amino acids leucine, isoleucine, and valine. The disease is characterized by severe ketoacidosis, mental retardation, and neurological impairments. MSUD can be classified into genetic subtypes according to the genes of the branched-chain alpha-ketoacid d...

Analysis of zebrafish mutants that demonstrate abnormal locomotive behavior can elucidate the molecular requirements for neural network function and provide new models of human disease. Here, we show that zebrafish quetschkommode (que) mutant larvae exhibit a progressive locomotor defect that culminates in unusual nose-to-tail compressions and an inability to swim. Correspondingly, extracellula...

Maple syrup urine disease (MSUD) or branched-chain a -ketoaciduria is an autosomally inherited disorder in the catabolism of branched-chain amino acids leucine, isoleucine, and valine. The disease is characterized by severe ketoacidosis, mental retardation, and neurological impairments. MSUD can be classified into genetic subtypes according to the genes of the branched-chain a -ketoacid dehydro...