Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review

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 exp...

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Bibliographic Details
Published in:Orphanet journal of rare diseases 2010-05, Vol.5 (1), p.14-14, Article 14
Main Authors: Pinto, Louise L C, Vieira, Taiane A, Giugliani, Roberto, Schwartz, Ida V D
Format: Article
Language:English
Subjects:
Care and treatment
Development and progression
Fabry Disease - diagnosis
Fabry Disease - genetics
Fabry Disease - pathology
Female
Genetic aspects
Genetic Diseases, X-Linked - classification
Genetic Diseases, X-Linked - diagnosis
Genetic Diseases, X-Linked - genetics
Genetic Diseases, X-Linked - pathology
Health aspects
Humans
Metabolism, Inborn errors of
Mucopolysaccharidosis II - diagnosis
Mucopolysaccharidosis II - genetics
Mucopolysaccharidosis II - pathology
Review
Risk factors
X chromosome
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Summary: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 cross-correction (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.
ISSN:1750-1172
1750-1172
DOI:10.1186/1750-1172-5-14