Article Abstract:
Researchers have made advances recently that have led to greater understanding of the molecular and mutational basis of alkaptonuria, a well-known prototypic metabolic disorder that brings . Soon efforts will be made to treat the disorder using genetic engineering. Such efforts should be made with caution. It would not be an acceptable trade-off to get rid of some alkaptonuric problems in return for giving more serious metabolic problems, perhaps comeing from toxiciy of later tyrosine metabolites.
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Article Abstract:
The spectrum of mutations in alpha-mannosidosis, an autosomal recessive disorder arising from deficiency of lysosomal alpha-mannosidase (LAMAN), has been studied. In the screening of 43 patients from 39 families, mainly European in origin, 21 novel mutations and four polymorphic amino acid positions were found. Disease-causing mutations, most private or only in two or three families, with the exception of a missense mutation that brought on an R750W substitution, were found in 72% of the alleles.
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Article Abstract:
Autosomal dominant hypercholesterolemia (ADH), one of the most common hereditary disorders, maps to 1p34.1-p32 and is genetically more heterogeneous than usually thought. One large French pedigree and 12 other white families with ADH were identified, and linkage to LDLR and APOB were excluded. A new locus was implicated. ADH is characterized by an isolated elevation of LDL particles, brings premature mortality, and is usually thought to come from mutations in the LDLR and APOB genes.
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