Female Fabry disease patients and X-chromosome inactivation

Gene
Patrycja JuchniewiczEwa Piotrowska

Abstract

Fabry disease is an X-linked inherited lysosomal storage disorder caused by mutations in the gene encoding α-galactosidase A (GLA). Once it was thought to affect only hemizygous males. Over the last fifteen years, research has shown that most females carrying mutated allele also develop symptoms, demonstrating a wide range of disease severity, from a virtually asymptomatic to more classical profile, with cardiac, renal, and cerebrovascular manifestations. This variable expression in females is thought to be influenced by the process of X-chromosome inactivation (XCI). The aim of this study was to assess severity of the clinical phenotype, to analyze XCI patterns, and to estimate their effect on disease manifestation in twelve female Fabry disease patients from five unrelated Polish families. Our analyses revealed that patients presented with the broad range of disease expression - from mild to severe, and their clinical involvement did not correlate with XCI profiles. Female carriers of the mutation in the GLA gene with the random XCI may present with the wide range of disease signs and symptoms. Thus, XCI is not a main factor in the phenotype variability of Fabry disease manifestation in heterozygous females.

Citations

Oct 20, 2018·Internal Medicine·Saori YamamotoHiroaki Shimokawa
Jun 28, 2019·Internal Medicine·Yuji KatoTasuku Nagasawa
Aug 15, 2019·Molecular Genetics & Genomic Medicine·Päivi Pietilä-EffatiIlkka Kantola
Jul 12, 2020·Human Mutation·Hsiao-Jung KaoNi-Chung Lee
Oct 16, 2019·Frontiers in Genetics·Patrícia VarelaJoão Bosco Pesquero
Mar 7, 2020·Clinical Journal of the American Society of Nephrology : CJASN·Einar Svarstad, Hans Peter Marti
Aug 29, 2020·International Journal of Molecular Sciences·Michel BoutinChristiane Auray-Blais
Aug 29, 2020·International Journal of Molecular Sciences·Anna KloskaJoanna Jakóbkiewicz-Banecka
Nov 7, 2020·Metabolic Brain Disease·Patrícia VarelaJoão Bosco Pesquero
Feb 4, 2021·Clinical Epigenetics·Teodolinda Di RisiLorenzo Chiariotti
May 1, 2021·International Journal of Molecular Sciences·Patrycja JuchniewiczJoanna Jakóbkiewicz-Banecka
Mar 25, 2021·Ear and Hearing·Ertugrul KiykimAhmet Atas
Jan 28, 2022·American Journal of Medical Genetics. Part a·Saskia KoeneLiselotte J C Rotteveel

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.