Posts By: thicksole

Chapter 6: Multifactorial Disease

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It’s DOI permalink is http://dx.doi.org/10.1036/ommbid.13 This chapter is publicly accessible and you may download a PDF of the chapter at no charge.

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Oyarzabal, A et al. (Hum. Mutat. 34: 355-362, 2013) recently described a new gene associated with a variant form of Maple Syrup Urine Disease (MSUD). This gene, PPM1K, encodes for phosphatase PP2Cm, a newly discovered member of the branched-chain ?-keto acid dehydrogenase (BCKDH) complex. This gene was disovered in an individual affected with a mild […]

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Several new epilepsy genes are discovered with next-generation sequencing. For example, PPRT2 mutations were identified initially in paroxysmal kinesigenic dyskinesia, and are also seen in infantile seizures and febrile seizures. More recently, DEPDC5 mutations were identified in a variety of dominantly-inherited familial focal epilepsies. The precise role of each protein in the central nervous system […]

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Renal tubular dysfunction with progression into chronic tubulointerstitial nephritis and end stage renal disease is a major problem of methylmalonic acidemia (MMA). The study by Dr. Venditti's group published in PNAS shows that the renal disease is a cell-autonomous process because transgenic Mut(-/-) mice expressing Mut in the liver still develop the renal disease despite the rescue […]

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As I recently discovered, genetic counseling in a family with a child affected with D2 hydroxyglutaric (D2 HG) aciduria has become quite complicated. In addition to counseling on the possibility of the autosomal recessive form, caused by mutations in D2-HG dehydrogenase, now this counseling needs to include the possibility of dominant mutations (usually de novo, unless one […]