Research Article
Genetic Aspects of Adult-Type Hypolactasia
Domenico Dell’Edera1*, Francesco Paolo Nicoletti1, Maria Rosaria D’Apice2, Arianna Allegretti1 and Annunziata Anna Epifania31Unit of Cytogenetic and Molecular Genetics, Madonna delle Grazie Hospital, Matera, Italy
2Medical Genetics Unit, Policlinico Tor Vergata, Rome, Italy
3Unit of Clinical Chemistry, Madonna delle Grazie Hospital, Matera, Italy
- *Corresponding Author:
- Dr Domenico Dell'Edera
Unit of Cytogenetic and Molecular Genetics, Madonna delle Grazie Hospital
Contrada Cattedra Ambulante, Matera 75100, Italy
Tel: 0835253439
E-mail: domenicodelledera68@gmail.com
Received date: September 19, 2016; Accepted date: October 26, 2016; Published date: November 2, 2016
Citation: Dell’Edera D, Nicoletti FP, D’Apice MR, Allegretti A, Epifania AA (2016) Genetic Aspects of Adult-Type Hypolactasia. J Gastrointest Dig Syst 6:475. doi:10.4172/2161-069X.1000475
Copyright: © 2016 Dell’Edera D, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Abstract
Background and Objective: Lactose is a disaccharide sugar and is found in mammals milk and derivatives. Lactose intolerance is the inability to metabolize lactose, because of a lack of the required enzyme lactase in the digestive system. Genetically the physiological hypolactasia (primary LM) is associated with the LCT-13910 C/T and LCT-22018 G/A polymorphisms. The aim of this study focused on the diagnosis and treatment intolerance or malabsorption of lactose in a cohort of 983 patients for the appearance of non-specific symptoms suggestive of a lactose intolerance.
Methods: The work was divided into the following phases: diagnosis of lactose intolerance or malabsorption; Check the incidence of primary lactase deficiency in the population Lucana (Italy); Evaluate the improvement of post-diagnosis symptoms and impact on quality of life (Q.O.L: Quality Of Life) as a result of enzymatic and/or food therapy in intolerant subjects. Evaluate the correlation genotype/phenotype studying variants -13910 C>T and -22018 A>G in LPH gene.
Results: Of the 983 participants, 668 subjects (67.95%) had a positive homozygous mutation (associated to-13910CC hypolactasic phenotype), 314 subjects (31.94%) had a positive heterozygous mutation (associated to -13910CT lactase persistent phenotype) and only in 1 subject (0,1%) the 2 alleles were not mutated (-13910TT dominant homozygous). The present work reveals a 67.95% of participant with a positive homozygous mutation (-13910CC).
Conclusions: The lactose malabsorption is a condition widespread in Italy, but much less frequently is the syndrome of intolerance. Embarking on a diet that a priori excludes milk and derivatives, in the absence of a definitive diagnosis, it can have a negative impact on the welfare of the organism The genetic test is really simple and noninvasive, confirms or excludes a malabsorption and in particular circumstances provides a predictive test to detect primary hypolactasia long before of her clinical manifestation.
