PubMed · 13857226
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1960. PROGRAMS on acoholism.. https://pubmed.ncbi.nlm.nih.gov/13857226/
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Alcoholism is one of the main causes of damage for human health, being relevant to study the induction of chromosomal aberrations (CA) by ethanol, and to investigate the individual susceptibility to diseases caused by alcoholism. A cytogenetic study was performed in human peripheral blood lymphocytes of 29 heavy chronic alcoholics, 11 alcoholics in abstinence, and 10 controls. The values of the chromosomal aberrations, mitotic indexes (MI) and proliferation indexes (PI) were determined. A molecular cytogenetic study was also carried out using fluorescence in situ hybridization (FISH) method with DNA library probes for chromosomes 1, 3 and 6, in lymphocytes from chronic alcoholic individuals in comparison with a control group. The results showed that the CA frequencies for chronic alcoholics (5.15 CA/100 cells) and alcoholics in abstinence (3.87 CA/100 cells) were higher than those obtained for control individuals (1.72 CA/100 cells). The mean translocation frequencies (equivalent to the genome) were calculated for six chronic alcoholics (0.267 translocations/100 cells) and six alcoholics in abstinence (0.167 translocations/100 cells), whose values were significantly higher than those observed for six control individuals (0.067 translocations/100 cells). The CA frequencies were not statistically different when smoker and non-smoker alcoholics were compared, indicating that although the smoking habit had significantly increased (four-fold) the CA frequency in healthy control individuals, a lack of interaction effect was observed within the group of alcoholics when smokers and non-smokers were compared. The CA frequencies presented by alcoholics in abstinence were similar to those obtained for chronic alcoholics. Therefore, chronic ethanol intoxication can lead to chromosome damage and disturbances in the metabolism of endogenous and exogenous compounds, which may persist for a long time, and constitute a relevant factor of risk for the development of neoplasias.
Benign symmetrical lipomatosis (BSL) is a rare disorder characterized by the presence of multiple, symmetric, nonencapsulated fat masses in the face, neck, and other areas. Typically, this entity has been related to the presence of three anterior bulges in the neck. The disorder was first described by Brodie in 1846. After that, Madelung in 1888 and Launois and Bensaude in 1898 characterized the disease. There are multiple synonyms for this disorder, such as Madelung's disease, Launois-Bensaude syndrome, and multiple symmetrical lipomatosis. Benign symmetric lipomatosis is usually described in adults from 30 to 60 years old, with an incidence of about 1 in 25,000 and a male-to-female ratio of 15:1 to 30:1. Most cases have no hereditary pattern. More than 90% of the patients have associated alcoholism. The etiology of benign symmetric lipomatosis remains unknown, but an abnormal lipogenesis induced by catecholamines has been observed. The transformation of BSL to a malignant tumor is extremely rare. In the current report, the authors describe two cases of benign symmetric lipomatosis treated in their department and a review of the literature.
RATIONALE: Alcohol dependence is characterized by the development of tolerance, withdrawal symptoms, and craving for alcohol. Chronic alcohol consumption causes neuroadaptive changes in the central dopaminergic and serotonergic system, which are partially reversible after detoxification. The severity and time-course of recovery of these neuroadaptive changes may depend on the genetic constitution of monoamine transporters and receptors and contribute to the relapse risk of alcoholics. OBJECTIVES: To assess the interaction between the genetic constitution and the in vivo availability of dopamine and serotonin transporters and receptors, chronic alcohol intake, alcohol craving and withdrawal. METHODS: Review of brain imaging studies that assess the genotype and availability of dopamine and serotonin transporters in detoxified alcoholics and healthy control subjects. RESULTS: Chronic alcohol intake induced neuroadaptive reductions in striatal dopamine transporter (DAT) availability, which were reversible during early abstinence. A polymorphism of the DAT gene (SLC6A3) was associated with the in vivo transporter availability and with the severity of alcohol withdrawal. Neurotoxic reductions in 5-HTT protein expression were limited to homozygous carriers of the long allele in the 5-HTT gene (SCL6A4) regulatory region and correlated with negative mood states. CONCLUSION: Genetic constitution interacts with the in vivo availability of central dopamine and serotonin transporters during alcohol detoxification and may affect the severity of alcohol withdrawal and clinical depression.