Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The mammalian Na+/H+ exchanger isoform one (NHE1) is a plasma membrane protein that is ubiquitously present in human cells. It functions to regulate intracellular pH removing an intracellular proton in exchange for one extracellular sodium and is involved in heart disease and in promoting metastasis in cancer. It is made of a 500 amino acid membrane domain plus a 315 amino acid, regulatory cytosolic tail. The membrane domain is thought to have 12 transmembrane segments and a large membrane-associated extracellular loop. Early studies demonstrated that in mice, disruption of the NHE1 gene results in locomotor ataxia and a phenotype of slow-wave epilepsy. Defects included a progressive neuronal degeneration. Growth and reproductive ability were also reduced. Recent studies have identified human autosomal homozygous recessive mutations in the NHE1 gene (SLC9A1) that result in impaired development, ataxia and other severe defects, and explain the cause of the human disease Lichtenstein-Knorr syndrome. Other human mutations have been identified that are stop codon polymorphisms. These cause short non-functional NHE1 proteins, while other genetic polymorphisms in the NHE1 gene cause impaired expression of the NHE1 protein, reduced activity, enhanced protein degradation or altered kinetic activation of the protein. Since NHE1 plays a key role in many human physiological functions and in human disease, genetic polymorphisms of the protein that significantly alter its function and are likely play significant roles in varying human phenotypes and be involved in disease.
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PMID:Role of Genetic Mutations of the Na+/H+ Exchanger Isoform 1, in Human Disease and Protein Targeting and Activity. 3320 82

Laurence-Moon-Bardet-Biedl syndrome (LMBBS), a rare autosomal recessive genetic disorder, results from consanguineous marriage. It is a congenital ciliopathy manifesting with primary and secondary characteristics. Primary clinical features include rod and cone dystrophy, polydactyly, central obesity, genital abnormalities, and mental retardation, often presenting as poor schooling skills. Secondary clinical features include developmental delay, speech deficit, brachydactyly/syndactyly, dental defects, ataxia, olfactory deficit, diabetes mellitus (DM), and congenital heart disease. Herein, we report a case of a 15-year-old male with clinical manifestations of LMBBS, namely learning disabilities, night blindness, hypogonadism, polydactyly, polysyndactyly, and obesity. Physicians must be familiar with this syndrome, for which an early diagnosis, multidisciplinary approach, and regular follow-ups can profoundly diminish morbidity and mortality in LMBBS patients.
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PMID:Laurence-Moon-Bardet-Biedl Syndrome: A Rare Case With a Literature Review. 3330 90


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