Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0162871 (abdominal aortic aneurysm)
 8,664 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Vitamin B(12) (cobalamin) is an essential cofactor of two enzymes, methionine synthase and methylmalonyl-CoA mutase. The conversion of the vitamin to its coenzymes requires a series of biochemical modifications for which several genetic diseases are known, comprising eight complementation groups (cblA through cblH). The objective of this study was to clone the gene responsible for the cblA complementation group thought to represent a mitochondrial cobalamin reductase. Examination of bacterial operons containing genes in close proximity to the gene for methylmalonyl-CoA mutase and searching for orthologous sequences in the human genome yielded potential candidates. A candidate gene was evaluated for deleterious mutations in cblA patient cell lines, which revealed a 4-bp deletion in three cell lines, as well as an 8-bp insertion and point mutations causing a stop codon and an amino acid substitution. These data confirm that the identified gene, MMAA, corresponds to the cblA complementation group. It is located on chromosome 4q31.1-2 and encodes a predicted protein of 418 aa. A Northern blot revealed RNA species of 1.4, 2.6, and 5.5 kb predominating in liver and skeletal muscle. The deduced amino acid sequence reveals a domain structure, which belongs to the AAA ATPase superfamily that encompasses a wide variety of proteins including ATP-binding cassette transporter accessory proteins that bind ATP and GTP. We speculate that we have identified a component of a transporter or an accessory protein that is involved in the translocation of vitamin B(12) into mitochondria.
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PMID:Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. 1243 53

Lipoprotein(a) (Lp(a)) is a low density lipoprotein-like particle in which apolipoprotein B100 is covalently linked to the unique apolipoprotein(a). There is a mounting body of evidence suggesting a role of Lp(a) in the development and progression of several vascular diseases, such as coronary heart disease, ischemic stroke, abdominal aortic aneurysm and venous thromboembolism, so that prominent scientific societies have recently endorsed guidelines and recommendations that increasingly encourage the screening and the therapeutic management of Lp(a) excess. In this article, we review the epidemiologic evidence, guidelines and recommendations concerning the relationship between increased plasma Lp(a) levels and risk of cardiovascular disease or venous thromboembolism by systematically retrieving the most relevant articles from electronic databases. Although uncertainty still remains regarding the opportunity to screen for hyperlipoproteinemia(a), it seems inopportune as yet to measure plasma Lp(a) levels in asymptomatic persons, while its measurement might be of clinical significance in selected categories of patients at intermediate or high cardiovascular risk. The measurement of Lp(a) should be performed by using immunometric, harmonized and size-insensitive techniques and results reported in total lipoprotein mass rather than in traditional units. It is uncertain if Lp(a) genotyping or phenotyping add any additional information for the cardiovascular disease risk stratification. Although the optimal therapeutic management of Lp(a) excess is still controversial, a general agreement exists that very high Lp(a) levels should be lowered in patients with multiple cardiovascular risk factors, preferably with nicotinic acid therapy (e.g., 1.0-3.0 g/day).
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PMID:Screening and therapeutic management of lipoprotein(a) excess: review of the epidemiological evidence, guidelines and recommendations. 2125 36

The geographic distribution of Iris yellow spot virus (IYSV, Genus Tospovirus, Family Bunyaviridae) in onion (Allium cepa L.) crops in the western United States has increased with the most recent report in Colorado (1,4). Furthermore, the incidence of IYSV has increased significantly in onion crops in the Treasure Valley of southern Idaho and eastern Oregon, where the disease was first detected in the United States (1,2). Surveys of onion seed crops in Washington during the past 2 years showed the presence of plants with symptoms characteristic of IYSV infection, including distinct diamond-shaped chlorotic or necrotic lesions, as well as indistinct circular to irregular, chlorotic or necrotic lesions of various sizes on the scapes of flowering plants. To date, symptomatic plants have been observed in five seed crops in Washington, at incidences ranging from <1% to approximately 20% in individual seed crops. Enzyme-linked immunosorbent assays carried out directly on symptomatic onion samples collected in July 2002, and on Nicotiana benthamiana plants mechanically inoculated with sap from these symptomatic plants, did not detect the presence of IYSV. In late July 2003, symptomatic plants were collected from an onion seed crop in Grant County and tested for IYSV infection by reverse transcription-polymerase chain reaction (RT-PCR). Total nucleic acid was extracted from symptomatic areas of the scapes with the procedure described by Presting et al. (3). Primers specific to the nucleocapsid (NP) gene of IYSV were designed based on sequences in GenBank: 5'-TCA GAA ATC GAG AAA CTT-3' and 5'-TAA TTA TAT CTA TCT TTC TTG G-3' (sense and antisense polarity, respectively). The RT-PCR assay produced an amplicon of the expected size (approximately 700 bp) that was cloned and sequenced. Comparison with the GenBank IYSV gene sequences showed 98% sequence identity of the NP gene. In August 2003, symptoms of IYSV infection were observed in two onion bulb crops, each located within 2 miles of the symptomatic onion seed crop in Grant County. The presence of IYSV in these crops was confirmed by RT-PCR with cloning and sequencing of the amplicon, as described for the seed crop samples. To our knowledge, this is the first confirmation of IYSV in onion bulb and seed crops in Washington, where 16,000 to 18,000 acres of onion bulb crops and 700 to 900 acres of onion seed crops are grown annually (USDA National Agricultural Statistics Service). The increase in prevalence of IYSV in the Pacific Northwest highlights the need for additional research to clarify the epidemiology of this potentially significant pathogen and to develop a regional management program for iris yellow spot. References: (1) J. M. Hall et al. Plant Dis. 77:952, 1993. (2) J. W. Moyer et al. (Abstr.) Phytopathology 93(suppl.):S115, 2003. (3) G. G. Presting et al. Phytopathology 85:436, 1995. (4) H. F. Schwartz et al. Plant Dis. 86:560, 2002.
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PMID:Iris Yellow Spot Virus in Onion Bulb and Seed Crops in Washington. 3081 38