Frequency of monosomy X in women with primary biliary cirrhosis

@article{Invernizzi2004FrequencyOM,
  title={Frequency of monosomy X in women with primary biliary cirrhosis},
  author={Pietro Invernizzi and Monica Miozzo and Pier Maria Battezzati and Ilaria Bianchi and Francesca Romana Grati and Giuseppe Simoni and Carlo Selmi and Mitchell R. Watnik and Merrill Eric Gershwin and Mauro Podda},
  journal={The Lancet},
  year={2004},
  volume={363},
  pages={533-535}
}
The mechanisms that cause the female predominance of primary biliary cirrhosis (PBC) are uncertain, but the X chromosome includes genes involved in immunological tolerance. We assessed the rate of X monosomy in peripheral white blood cells from 100 women with PBC, 50 with chronic hepatitis C, and 50 healthy controls, by fluorescence in-situ hybridisation. Frequency of X monosomy increased with age in all groups, but was significantly higher in women with PBC than in controls (p<0.0001); age… 
Can Turner syndrome teach us about the pathogenesis of chronic cholestasis?
TLDR
It is suggested that haploinsufficiency for specific X‐linked genes leads to female susceptibility to PBC, and frequency of X monosomy increased with age in all groups, but was significantly higher in women with PBC than in controls.
X Chromosome Monosomy: A Common Mechanism for Autoimmune Diseases1
TLDR
The thesis that chromosome instability is common to women with SSc and AITD and that haploinsufficiency for X-linked genes may be a critical factor for the female predominance of autoimmune diseases is highlighted.
The X-factor in primary biliary cirrhosis: monosomy X and xenobiotics
TLDR
X monosomy and xenobiotics appear to constitute the X-factor of PBC, which has a striking female predominance, and primarily affects women of middle-age.
Y chromosome loss in male patients with primary biliary cirrhosis.
TLDR
It is demonstrated that Y chromosome loss indeed is higher in PBC males compared to healthy controls, and this phenomenon increases with aging, and the existence of an analogous mechanism in the male population to previously identified X haploinsufficiency in female patients with organ-specific autoimmune disease is confirmed.
X chromosome monosomy in primary and overlapping autoimmune diseases.
TLDR
The shorter time of evolution and the higher prevalence of XCM interphase nuclei observed in RS patients sustain the hypothesis of the additive effect of X chromosome monosomy, which has been associated with primary biliary cirrhosis and systemic sclerosis.
Role of X chromosome defects in primary biliary cirrhosis
  • P. Invernizzi
  • Biology, Medicine
    Hepatology research : the official journal of the Japan Society of Hepatology
  • 2007
TLDR
Enhanced X monosomy in women with PBC as well as two other female‐predominant autoimmune diseases, systemic sclerosis and autoimmune thyroid disease are demonstrated and the potential implications are discussed.
Primary biliary cirrhosis: does X mark the spot?
TLDR
It is suggested that the enhanced monosomy X in peripheral white blood cells, and particularly in lymphocytes, of affected women might play a role in the induction of PBC, and the implications of these findings and their immunological implications are discussed.
The enigma of primary biliary cirrhosis
TLDR
The recent evidence indicating a role for either xenobiotic chemicals or novel infectious agents in the induction of the disease is presented.
Environmental factors in primary biliary cirrhosis
  • C. Selmi
  • Biology, Medicine
    Hepatology research : the official journal of the Japan Society of Hepatology
  • 2007
TLDR
Observations in monozygotic twins and epidemiology strongly support a role for environmental factors in PBC onset, and molecular mimicry by either infectious agents or chemicals has been proposed to induce breakdown of immune tolerance in genetically predisposed individuals.
Sex Differences Associated with Primary Biliary Cirrhosis
TLDR
This paper will critically analyze the literature surrounding PBC in males and conclude that there does not appear to be any histological, serological, or biochemical differences between male and female PBC, although the symptomatology may differ.
...
1
2
3
4
5
...

References

SHOWING 1-6 OF 6 REFERENCES
Primary biliary cirrhosis
Primary biliary cirrhosis is a chronic cholestatic liver disease of adults. This disorder is characterised histologically by chronic non-suppurative destruction of interlobular bile ducts leading to
Turner's syndrome
TLDR
The increasing interest in Turner's syndrome over the past two decades has been motivated both by the quest for a model by which the multi-faceted features of this disorder can be understood, and the endeavour to provide life-long support to the patient.
The X chromosome and the ovary.
TLDR
Mutational analysis of candidate genes in a large number of women with idiopathic POF is needed to determine which of these genes contribute to the cause of this disorder.
Aneuploidy correlated 100% with chemical transformation of Chinese hamster cells.
  • R. Li, G. Yerganian, +4 authors R. Hehlmann
  • Biology, Medicine
    Proceedings of the National Academy of Sciences of the United States of America
  • 1997
TLDR
It is concluded that aneuploidy is the cause rather than a consequence of transformation of cancer, which can explain the numerous unique properties of cancer cells, such as invasiveness, dedifferentiation, distinct morphology, and specific surface antigens.
Sex differences in autoimmune disease
TLDR
A new interest in understanding the biology of this difference as well as funding opportunities have focused attention on research priorities in sex differences.