Encephalopathy genetics

Brown, P., Goldfarb, L.G. and Gajdusek, D.C. (1991b). The new biology of spongiform encephalopathy infectious amyloidosis with a genetic twist. Lancet 337, 1019-1022. 

Improving nutrition is essentially a process of encouraging people to make healthful choices that improve their well-being (Wansink, 2005). What happens, however, when we believe contamination, terrorism, or a genetic incidence threatens a part of the food supply Sometimes crises influence the recall, redesign, and communication efforts of individual companies (such as Tylenol, Perrier, Pilgrim s Pride). Others, such as the threat of mad cow disease (bovine spongiform encephalopathy, or BSE) in beef can compromise an entire industry. 

Prusiner, S. B. (1991). Molecular biology of prions causing infectious and genetic encephalopathies of humans as well as scrapie of sheep and BSE of cattle. Dev. Biol. Stand. 75, 55-74. 

Urea cycle disorders (UCDs) Hyperammonemic encephalopathy, sometimes fatal, has been reported following initiation of valproate therapy in patients with UCDs, a group of uncommon genetic abnormalities, particularly ornithine transcarbamylase deficiency. Patients who develop symptoms of unexplained hyperammonemic encephalopathy while receiving valproate therapy should receive prompt treatment (including discontinuation of valproate therapy) and be evaluated for underlying urea cycle disorders (see Precautions). 

This has been highlighted by a number of food safety issues. For example, lack of confidence that uncertainties were being adequately dealt with has been an important factor in recent public concerns about bovine spongiform encephalopathy and genetically modified crops, especially in Europe. Uncertainty was also a factor in the earlier controversy over alar in apples (e.g., Ames and Gold 1989 Groth 1989 Thayer 1989). 

Mills PB, Surtees RAH, Champion MP, Beesley CE, et al (2005) Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5 -phosphate oxidase. Hum Mol Genet 14 1077-1086... 

Although DNA mutations in nuclear DNA may cause mitochondrial dysfunction, the majority of genetically defined mitochondrial diseases are caused by mutations in mtDNA (M15, PI, S4). Point mutations and deletions of mtDNA have been reported to be associated with or responsible for mitochondrial myopathies and/or encephalomyopathies (M15, PI, S4). Patients with such diseases usually manifest major clinical symptoms early in life and at a later stage may develop additional multisystem disorders such as encephalopathy and/or peripheral neuropathy. Most of the mitochondrial myopathies occur sporadically and are often caused by large-scale mtDNA deletions (PI). However, there are several reports on maternally inherited mitochondrial myopathy and familial mitochondrial myopathy. These patients usually harbor a specific mtDNA mutation and often exhibit defects in NADH-CoQ reductase and/or cytochrome c oxidase. 

In the period prior to launch of the White Paper, the European Community had experienced consumer disquiet due to a number of food scares. These included contamination of animal feed, bovine spongiform encephalopathy (BSE), concern about the use of antimicrobial feed additive used to increase productivity in animal production, and genetically modified food. The White Paper identified the need to reestablish consumer confidence in the European food supply and to reassure trading partners of the Communities ability to regulate and control die safety of its food supply. 

Genetic defects of molybdopterin biosynthesis (Fig. 3) also result in severe neurologic and developmental deflcits (74). Genetic defects in the biosynthesis of the quinine-type coenzyme QIO (97, Fig. 11) can result in encephalopathy, myopathy, and renal disease (53). 

Storage diseases Some of the genetic metabolic diseases require special dietary measures, e.g. (1.) disorders of the urea cycle are treated by means of a diet similar to that applied in encephalopathy (s. p. 594), (2.) Gierke s disease necessitates a high-carbohydrate diet (s. p. 595), (i.) Cori s disease is treated with formula diets and a starch diet (s. p. 596), (4.) galactosaemia requires a galactose-and lactose-free diet (s. p. 597), and (5.) in fructose intolerance, a fructose- and saccharose-free diet must be given, (s. p. 597)... 

Tiranti V, D Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, et al. Ethylmalonic encephalopathy is caused by mutations in ETHEl, a gene encoding a mitochondrial matrix protein. Am J Hum Genet 2004 74 239-52... 

Collinge, J. (1997). Human prion diseases and bovine spongiform encephalopathy (BSE). Hum. Mol. Genet. 6, 1699-1705. 

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