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Genetics of Digestive Diseases: An Overview

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Biomarkers should ultimately result in prescriptive, focused treatment modifications that enhance GI disease patients' outcomes.

Medically reviewed by

Dr. Ghulam Fareed

Published At August 18, 2023
Reviewed AtApril 1, 2024

Introduction:

Food is converted into energy during digestion, which also helps to maintain the body's structural integrity. From the mouth to the anus, the digestive tract comprises several hollow organs connected by a lengthy, twisted tube. The mucosa, a lining, is located inside this tube. The mouth, stomach, and small intestine mucosa are home to microscopic glands that create enzymes to aid food digestion. The liver and the pancreas, two other solid digestive organs, also produce enzymes that travel through tiny tubes to the intestine.

Food is broken down in the stomach after traveling via the esophagus, the throat, and the stomach during the digestive process. Food that has yet to be fully digested enters a small tube called the duodenum. The small intestine's initial segment. The small intestine also includes the jejunum and ileum. To aid in digestion in the small intestine, the liver, gallbladder, and pancreas, all create various enzymes and other chemicals. After digestion is complete, waste is carried downstream to the colon. The body's digestive system, which separates nutrients from food and holds waste until expelled from the body, includes the colon and rectum. The large intestine is a lengthy muscular tube of the colon and rectum.

Food, exercise, and how stressful and chaotic the day is are all elements that influence the health of the digestive system. Nonetheless, some digestive illnesses, including those covered in this article, are thought to run in families or result from an infection. Some have an unknown reason.

What Are the Digestive Diseases That Run in Families?

Conditions of the small intestine and colon

What Genes Can Tell People About the Gut?

As scientists unravel more riddles about the human genome, it becomes clear how much of everyday life is controlled by genes, including how individuals look, how their bodies respond to specific therapies, and even what sorts of foods individuals prefer. It has already discussed how genetics plays a significant role in many gastrointestinal (GI) issues, including celiac disease and inflammatory bowel disease, both of which have hereditary roots. This essay will review several intriguing genetic factors that can help people understand more about GI and liver health.

Dairy Diarrhea

While most people have no issues eating dairy products, some can suffer from severe digestive distress (including diarrhea, gas, and bloating) from even tiny amounts of these foods. Lactose, a milk sugar that is broken down by the enzyme lactase, is the cause of the issue. As lactose is a constituent of human breast milk, almost everyone is born with the capacity to produce lactase. Some people lose this ability after infancy and can no longer process the lactose found in typical dairy products; they are lactose intolerant.

Researchers have discovered a genetic marker that can determine whether or not a person has the genetic capacity to produce lactase after birth. This is crucial since some individuals can develop lactose intolerance by avoiding lactose. This is significant because some people can develop lactose intolerance after abstaining from lactose for a protracted period. Still, they can gradually introduce dairy products into their diets to regain their capacity to manufacture lactase. Other people's bodies, no matter how much instruction they receive, are unable to generate lactase on their own. Some folks would benefit more from taking lactase supplements or switching to dairy-free alternatives before consuming dairy. Making the best choices for one's physiology is made easier when one has access to a simple test that determines whether one is lactose intolerant or not.

Protection From Norovirus

Most people have probably been in a situation when a friend, classmate, or relative gets sick without warning, and before they know it, everyone around is sick, including them. This could also be known as "the stomach flu" or another similar phrase. Although vomiting is not a sign of the flu, it is a disorder known as viral gastroenteritis brought on by a norovirus. Perhaps the lucky person may experience sporadic signs of this condition. This person most likely has immunity to the strain of norovirus that is most common.

The genetic makeup determines whether one has norovirus resistance. Now, one can state with certainty that a person's norovirus resistance can be determined by just one genetic biomarker. Additionally, since there might be other genes that carry out the same function, not having the gene does not prohibit someone from being able to resist the virus.

What Is the Efficacy of PPI?

By lowering the quantity of gastric acid produced in the stomach, proton pump inhibitors (PPIs) are a class of drugs used to treat gastroesophageal reflux disease (GERD), ulcer disease, and H. pylori infection. While they are frequently the most successful treatments for people with gastric acid-related conditions, some patients discover that standard doses are ineffective or that the advantages fade faster than they should.

Several of the genes regulate the production of certain enzymes that help human bodies digest and get rid of medicines and other substances. One of these genes produces enzymes that hasten the degradation of PPI drugs. Those who carry this genetic marker might need to take PPIs more frequently than is generally recommended, or they might need to take additional drugs. Knowing this is crucial since a significant portion of the population (between 37 % and 70 %, depending on ethnicity) may carry this variant and require particular medicine.

What Are the Therapy for Hepatitis C in Relation to the Gut?

The most effective treatment for hepatitis C involves combining pegylated interferon (peginterferon), Ribavirin, and protease inhibitors. Also, some patients react very well to pegylated interferon and Ribavirin, whereas others do not seem to react.

It is possible to predict who will respond to this therapy procedure without utilizing trial and error, but by looking at their DNA (deoxyribonucleic acid), according to an intriguing genetic discovery. Those with specific genetic markers are less likely to respond to these drugs well. Prior knowledge of a person's response to medication can significantly enhance patient care.

Conclusion:

Since its inception as an internal medicine specialty, gastroenterology, hepatology, and pancreatology have seen a significant transformation. A comprehensive understanding of the pathophysiology and physiology of the gastrointestinal system, liver, and pancreas was the original focus and goal of the specialty, which is still actively evolving today. People started to understand stomach acid secretion, gut motility, autoimmune illnesses of the gut, pancreas, and liver, and how infectious diseases spread and impact the GI tract. With the knowledge that was gained and the creation of therapeutic approaches, treatment gradually became practicable. Proton pump inhibitors, histamine type 2 blockers, nucleotide and nucleoside analogs, immune modulators, and various antibiotics have all been researched and utilized successfully to treat patients with GI illnesses.

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Dr. Ghulam Fareed
Dr. Ghulam Fareed

Medical Gastroenterology

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