Mutations disrupting

Brownlees, J., Ackerley, S., Grierson, A. J. et al. Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport. Hum. Molec. Genet. 11 2837-2844, 2002. 

Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA (known as mitochondrial DNA or mtDNA). In some cases, inherited changes in mitochondrial DNA can cause problems with growth, development, and function of the body s systems. These mutations disrupt the mitochondria s ability to generate energy efficiently for the cell. 

Garvey, S.M., Rajan, C., Lemer, A.P., Frankel, W.N. and Cox, G.A., 2002, The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin, Genomics, 79, 146-149... 

Other mutations of this gene cause severe neuropathies of infancy (Dejerine-Sottas disease), and still others lead to disability with a late onset (Shy et al., 2004). MPZ mutations disrupt the tertiary structure of PO protein, interfering with PO-mediated adhesion during myelination and with myelin compaction. In contrast, late onset neuropathies result from mutations that allow myelination but chronically disrupt Schwann cell-axonal interactions. A genotype/phenotype correlation is clear even though penetrance can vary within single families. 

Olztnann JA, Brown K, Wilkmson KD, Rees HD, Huai Q, Ke H, Levey AI, Li L, Chin LS (2004) Familial Parkinson s disease-associated L166P mutation disrupts DJ-1 protein folding and function. J Biol Chem 279 8506-8515... 

Katzmann, D.J., Epping, E.A., and Moye-Rowley W.S. (1999) Mutational disruption of plasma membrane trafficking of Saccharomyces cerevisiae Yorlp, a homologue of mammalian multidrug resistance protein. 

Other individuals who had also suffered intoxication following a subacute dose of pyridostigmine. In none of the cases studied was any abnormality of BuChE seen. The second mutation disrupts a probable glucocorticoid response element, but the consequences of this mutation arc yet to be elucidated however, there is surely some kind of effect. 

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