Gallstone Disease and Cholesterolosis in Monozygotic Twin Sisters

R Ivanchenkova; N Sharashkina; I Martirosyan; S Limborska; A Ryskov

doi:10.2478/v10034-007-0007-4

.blurhash-client-img { display: none !important; }

Gallstone Disease and Cholesterolosis in Monozygotic Twin Sisters

Balkan Journal of Medical Genetics

Volume 10 (2007): Issue 1 (April 2007)

By: R Ivanchenkova, N Sharashkina, I Martirosyan, S Limborska and A Ryskov

Open Access

|Oct 2007

Abstract

Gallstone disease and Cholesterolosis may be independent diseases or forms of the same disease, caused by impairment of cholesterol metabolism. Gallstone disease is characterized by formation of cholesterol concrements in the gallbladder cavity. Cholesterolosis is a hyperplastic cholecistosis, caused by cholesterol accumulation in the gallbladder wall with subsequent proliferation of gallbladder normal tissue elements. We describe monozygotic twin sisters, one of whom developed gallstone disease and the other developed cholesterolosis. Monozygosity was verified by a DNA fingerprinting method. Both had identical heterogeneity of plasma low density lipoprotein (LDL) subfractions, but associated with different functional conditions within the gallbladder. The different manifestations may be due to epigenetic, metabolic or environmental factors, since both had a common genetic basis.

References

Jacyna M, Bouchier I. Cholesterolosis: a physical cause of "functional" disorder. Br. Med J 1987; 295(12): 619-620.10.1136/bmj.295.6599.619
Search in Google Scholar
Stromsten A, von Bahr S, Bringman S, Saeki M, Sahlin S, Bjorkhem I, Einarsson C. Studies on the mechanism of accumulation of cholesterol in the gallbladder mucosa. Evidence that sterol 27-hydroxylase is not a pathogenetic factor. J Hepatol 2004; 40(1): 8-13.10.1016/S0168-8278(03)00502-6
Search in Google Scholar
van Berge-Henegouwen G, Venneman N, Portincasa P, Kosters A, van Erpecum K, Groen A. Relevance of hereditary defects in lipid transport proteins for the pathogenesis of cholesterol gallstone disease. Scand J Gastroenterol 2004; 39(Suppl 241): 60-69.10.1080/00855920410011022
Search in Google Scholar
Palot J, Pluot M, Delattre J, Remy G. Is vesicular cholesterolosis a particular anatomo-clinical form of cholesterol lithiasis? Apropos of a case of cholesterol polyp manifested by an acute complication. J Chirurg 1986; 123(8-9): 4676-471.
Search in Google Scholar
Kosters A, Jirsa M, Groen A. Genetic background of cholesterol gallstone disease. Biochim Biophys Acta 2003; 1637(1): 1-19.10.1016/S0925-4439(02)00173-4
Search in Google Scholar
Sarin S, Negi V, Dewan R, Sasan S, Saraya A. High familial prevalence of gallstones in the first-degree relatives of gallstone patients. Hepatology 1995; 22(1): 138-141.
Search in Google Scholar
Weiss K, Ferrell R, Hanis C, Styne P. Genetics and epidemiology of gallbladder disease in New World native peoples. Am J Hum Genet 1984; 36(6): 1259-1278.
Search in Google Scholar
Folch I, Lees M, Stanley S. A simple method for the isolation and purification of total lipids from animal tissues. J Biol Chem 1959; 226(1): 497-509.10.1016/S0021-9258(18)64849-5
Search in Google Scholar
Krauss R, Berke D. Identification of multiple subclasses of plasma low density lipoproteins in normal humans. J Lipid Res 1982; 23(1): 97-104.10.1016/S0022-2275(20)38178-5
Search in Google Scholar
Mathew C. The isolation of high molecular weight eukaryotic DNA. In: Walker J, Ed. Methods in Molecular Biology. New York: Humana, 1984; 31-34.
Search in Google Scholar
Limborska S, Prosnyak M, Bocharova T, Smirnova E, Ryskov A. The properties of human DNA fingerprints produced by polymeric monocore probes (PMC probes). Genet Anal Biomolec Eng 1999; 15(1): 19-24.10.1016/S1050-3862(98)00011-4
Search in Google Scholar
Tilvis R, Miettinen T. Sgualene, methylsterol and cholesterol levels in human organs; posmorten analysis of their distribution. Arch Pathol Lab Med 1980; 104(1): 35-40.
Search in Google Scholar
Xu Q, Shaffer A. The potential site of impaired gallbladder contractility in animal model of cholesterol gallstone disease. Gastroenterology 1996; 110(1): 251-257.10.1053/gast.1996.v110.pm8536864
Search in Google Scholar
Carey M. Pathogenesis of gallstones. Am J Surg 1993; 165(4): 410-419.10.1016/S0002-9610(05)80932-8
Search in Google Scholar
Juvonen T, Savolainen J, Kairaluoma M, Lajunen L, Humphries S, Kesaniemi Y. Polymorphisms at the apo B, apo A-1, and cholesteryl ester transfer protein gene loci in patients with gallbladder disease. J Lipid Res 1995; 36(4): 804-816.10.1016/S0022-2275(20)40064-1
Search in Google Scholar
Kesaniemi A, Koskenvuo M, Vuoristo M, Miettinen T. Biliary lipid composition in monozygotic and dizygotic pairs of twins. Gut 1989; 30(12): 1750-1756.10.1136/gut.30.12.175014344382612989
Search in Google Scholar

Articles in this issue

DOI: https://doi.org/10.2478/v10034-007-0007-4 | Journal eISSN: 2199-5761 | Journal ISSN: 1311-0160

Journal RSS Feed

Language: English

Page range: 39 - 42

Published on: Oct 10, 2007

Published by: Macedonian Academy of Sciences and Arts

In partnership with: Paradigm Publishing Services

Publication frequency: 2 issues per year

Keywords:

Cholesterolosis,

DNA fingerprinting,

Gallstone disease,

Monozygotic twin sisters,

Multifactorial disorders

Related subjects:

Medicine,

Basic medical science,

Basic medical science, other

© 2007 R Ivanchenkova, N Sharashkina, I Martirosyan, S Limborska, A Ryskov, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.

Volume 10 (2007): Issue 1 (April 2007)