New insights into the molecular basis of lactase non-persistence/persistence: a brief review

Kuchay, Raja A.H.

doi:10.5582/ddt.2019.01079

Cited by 15 publications

(10 citation statements)

References 71 publications

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“…The case of the Hadza is particularly intriguing because no associated mutation has been found despite a large sequencing effort, including intron 9 of MCM6 (1.3 kb), intron 13 of MCM6 (3.2 kb), and the LCT promoter (2 kb) [ 12 , 99 ]. As complementary underlying mechanisms, some authors have postulated that lactase phenotypes could also be directed by epigenetic modifications [ 31 , 63 , 101 , 102 , 103 ]. The first evidence supporting this hypothesis was published by Labrie et al (2016) [ 63 ], who demonstrated that the C allele from the −13910:C>T was associated with the appearance and accumulation of age-related methylations at both the MCM6 and the LCT regions [ 63 ].…”

Section: Resultsmentioning

confidence: 99%

Genetics of Lactose Intolerance: An Updated Review and Online Interactive World Maps of Phenotype and Genotype Frequencies

2020

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In humans the ability to digest milk lactose is conferred by a β-galactosidase enzyme called lactase-phlorizin hydrolase (LPH). While in some humans (approximately two-thirds of humankind) the levels of this enzyme decline drastically after the weaning phase (a trait known as lactase non-persistence (LNP)), some other individuals are capable of maintaining high levels of LPH lifelong (lactase persistence (LP)), thus being able to digest milk during adulthood. Both lactase phenotypes in humans present a complex genetic basis and have been widely investigated during the last decades. The distribution of lactase phenotypes and their associated single nucleotide polymorphisms (SNPs) across human populations has also been extensively studied, though not recently reviewed. All available information has always been presented in the form of static world maps or large dimension tables, so that it would benefit from the newly available visualization tools, such as interactive world maps. Taking all this into consideration, the aims of the present review were: (1) to gather and summarize all available information on LNP and LP genetic mechanisms and evolutionary adaptation theories, and (2) to create online interactive world maps, including all LP phenotype and genotype frequency data reported to date. As a result, we have created two online interactive resources, which constitute an upgrade over previously published static world maps, and allow users a personalized data exploration, while at the same time accessing complete reports by population or ethnicity.

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Section: Resultsmentioning

confidence: 99%

Genetics of Lactose Intolerance: An Updated Review and Online Interactive World Maps of Phenotype and Genotype Frequencies

2020

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“…Starch and sucrose are degraded by pancreatic amylase, sucrase-isomaltase (small intestine), and maltase-glucoamylase, while lactose is degraded into glucose and galactose by lactase (Figure 3). In most mammals, in contrast with sucrase and maltase activities, lactase activity declines after weaning, a condition known as lactase nonpersistence 46 . Mammalian genomes do not encode most enzymes needed to degrade the structural polysaccharides present in plant material 47 .…”

Section: Digestion Of Carbohydratesmentioning

confidence: 99%

Sugars and Gastrointestinal Health

Arnone

Chabot

Heba

et al. 2022

Clinical Gastroenterology and Hepatology

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“…Initially, lactase is synthesized as pre-pro-lactase, which contains a signal sequence that is then cleaved in the endoplasmic reticulum to form pro-lactase. During intracellular transport, pro-lactase becomes N- and O-glycosylated in the endoplasmic reticulum and Golgi apparatus leading to the mature form of lactase, which is then exported and anchored to the apical brush border membrane of the intestinal epithelial cells [ 19 ].…”

Section: Lactose Intolerance: Current Clinical Managementmentioning

confidence: 99%

“…Besides the genetic inheritance of LCT gene variants, some epigenetics processes are also involved in LCT regulation [ 117 ]. The progressive decline of lactase production throughout childhood and the development of LI into adult life in LNP individuals may be related to epigenetic aging [ 19 ]. Recent findings by Labrie et al have shown that the accumulation of epigenetic modifications altering lactase expression, such as DNA methylation, in aging cells, is dependent on the genetic variants regulating expression of the LCT gene [ 128 ].…”

Section: Application Of “Omics” Tools To Research On Lactose Intolerancementioning

confidence: 99%

Development of Personalized Nutrition: Applications in Lactose Intolerance Diagnosis and Management

et al. 2021

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Recent discoveries in the “omics” field and the growing focus on preventive health have opened new avenues for personalized nutrition (PN), which is becoming an important theme in the strategic plans of organizations that are active in healthcare, food, and nutrition research. PN holds great potential for individual health optimization, disease management, public health interventions, and product innovation. However, there are still multiple challenges to overcome before PN can be truly embraced by the public and healthcare stakeholders. The diagnosis and management of lactose intolerance (LI), a common condition with a strong inter-individual component, is explored as an interesting example for the potential role of these technologies and the challenges of PN. From the development of genetic and metabolomic LI diagnostic tests that can be carried out in the home, to advances in the understanding of LI pathology and individualized treatment optimization, PN in LI care has shown substantial progress. However, there are still many research gaps to address, including the understanding of epigenetic regulation of lactase expression and how lactose is metabolized by the gut microbiota, in order to achieve better LI detection and effective therapeutic interventions to reverse the potential health consequences of LI.

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New insights into the molecular basis of lactase non-persistence/persistence: a brief review

Cited by 15 publications

References 71 publications

Genetics of Lactose Intolerance: An Updated Review and Online Interactive World Maps of Phenotype and Genotype Frequencies

Genetics of Lactose Intolerance: An Updated Review and Online Interactive World Maps of Phenotype and Genotype Frequencies

Sugars and Gastrointestinal Health

Development of Personalized Nutrition: Applications in Lactose Intolerance Diagnosis and Management

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