Genetic diseases late-onset

Kamboh MI (2004) Molecular genetics of late-onset Alzheimer s disease. Ann Hum Genet 68 381 04... 

Diabetes is a metabolic disorder where glucose metabolism in the body is impaired. Type 1 diabetes is an early onset disease in which the pancreatic cells lose the function of insulin secretion either by genetic disposition or by a viral attack. Type 2 diabetes is a late onset disease developed due to insufficient insulin secretion or insulin resistance resulting in impaired glucose metabolism. 

Genetic factors cannot explain the recent rapid rise in asthma prevalence. Asthma appears to require both genetic predisposition and environmental exposure. Many patients with occupational asthma develop the disease late in life upon exposure to specific allergens in the workplace. Environmental influences in utero or in infancy may contribute to the development of asthma. Maternal smoking during pregnancy or exposure to secondhand smoke after birth increases the risk of childhood asthma.3 Adult-onset asthma is not uncommon and may be related to atopy, nasal polyps, aspirin sensitivity, occupational exposure, or a recurrence of childhood asthma. 

Corder EH, Saunders AM, Risch NJ, Strittmatter WJ, Schmechel DE, Gaskell PC, Rimmler JB, Locke PA, Conneally PM and Schmader KE (1994). Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease. Nature Genetics, 7, 180-184. 

Warwick Daw, E., Payami, H., Nemens, E. J. etal. The number of trait loci in late-onset Alzheimer disease. Am. J. Hum. Genet. 66 196-204,2000. 

Scott, W. K., Grubber, J. M., Conneally, P. M. etal. Fine mapping of the chromosome 12 late-onset Alzheimer disease locus potential genetic and phenotypic heterogeneity. Am. J. Hum. Genet. 66 922-932,2000. 

Phosphorylase deficiency (McArdle s disease, glycogenosis type V) is an autosomal recessive myopathy caused by a genetic defect of the muscle isoenzyme of glycogen phosphorylase (Fig. 42-1). Intolerance of strenuous exercise is present from childhood, but usually onset is in adolescence, with cramps after exercise [1, 5]. Myoglobinuria occurs in about one-half of patients. If they avoid intense exercise, most patients can live normal lives however, about one-third of them develop some degree of fixed weakness, usually as a late-onset manifestation of the disease. In a few patients, weakness rather than exercise-related cramps and myoglobinuria characterizes the clinical picture. 

Bertram, L. and Tanzi, R.E., Dancing in the dark The status of late-onset Alzheimer s disease genetics,/. Mol. Neurosci., 17,127, 2001. 

Bennet, C., Crawford, F., Osborne, A., et al. (1995) Evidence that the APOE locus influences rate of disease progression in late onset familial Alzheimer s disease but is not causative. Am. J. Med. Genet., 60, 1-6. 

In the elderly, in which Alzheimer s disease has been estimated to occur in up to 20% of those aged 80 years, it has been shown that one allelic form of APO E is associated with an increased risk for developing the disease. Of the three APO E allelic forms in man, APO E4 is associated with the late onset form of the disease this may account for up to 50% of the genetic risk for the late onset form whereas those carrying the less frequent E2 allele appear to be protected from the disease. 

Kehoe P, Wavrant-De Vrieze F, Crook R, et al. A full genome scan for late onset Alzheimer s disease. Hum Mol Genet 1999 8(2) 237-245. 

Locke PA, Conneally PM, Tanzi RE, Gusella JF, Haines JL. Apolipoprotein E4 allele and Alzheimer disease Examination of allelic association and effect on age at onset in both early-and late-onset cases. Genet Epidemiol 1995 12(1) 83—92. 

Holmes C, Arranz MJ, Powell JF, Collier DA, Lovestone S. 5-HT2A and 5-HT2C receptor polymorphisms and psychopathology in late onset Alzheimer s disease. Hum Mol Genet 1998 7(9) 1507-1509. 

Go RC, Perry RT, Wiener H, Bassett SS, Blacker D, et al. 2005. Neuregulin-1 polymorphism in late onset Alzheimer s disease families with psychoses. Am J Med Genet B Neurop-sychiatr Genet 139 28-32. 

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