Expression of the disease on female carriers of X-linked lysosomal disorders : a brief review
AUTOR(ES)
Pinto, Louise Lapagesse de Camargo
DATA DE PUBLICAÇÃO
2011
RESUMO
Most lysosomal diseases (LD) are inherited as autosomal recessive traits, but two important conditions have X-linked inheritance: Fabry disease and Mucopolysaccharidosis II (MPS II). These two diseases show a very different pattern regarding expression on heterozygotes, which does not seem to be explained by the X-inactivation mechanism only. While MPS II heterozygotes are asymptomatic in most instances, in Fabry disease most of female carriers show some disease manifestation, which is sometimes severe. It is known that there is a major difference among X-linked diseases depending on the cell autonomy of the gene product involved and, therefore, on the occurrence of cross-correction. Since lysosomal enzymes are usually secreted and uptaken by neighbor cells, the different findings between MPS II and Fabry disease heterozygotes can also be due to different efficiency of crosscorrection (higher in MPS II and lower in Fabry disease). In this paper, we review these two X-linked LD in order to discuss the mechanisms that could explain the different rates of penetrance and expressivity observed in the heterozygotes; this could be helpful to better understand the expression of X-linked traits.
ASSUNTO(S)
mucopolissacaridose ii doença de fabry doenças genéticas inatas
ACESSO AO ARTIGO
http://hdl.handle.net/10183/30415Documentos Relacionados
- X inactivation and immunocompetence in female carriers of the X-linked hyper-IgM syndrome.
- A novel X-linked combined immunodeficiency disease.
- X-Linked Female-Sterile Loci in DROSOPHILA MELANOGASTER
- The detection of carriers of benign (Becker-type) X-linked muscular dystrophy.
- Skewed X-Chromosome Inactivation Is a Common Feature of X-Linked Mental Retardation Disorders