Monogenic And Multigenic Diseases Biology Essay

Published: Last Edited:

This essay has been submitted by a student. This is not an example of the work written by our professional essay writers.

Monogenic diseases result from modifications in a single gene occurring in all cells of the body and they affect millions of people worldwide as scientists currently estimate that over 10,000 of human diseases (Ikonen, E. 2006). According to WHO, single-gene or monogenic diseases can be classified into three main categories like Dominant, Recessive and X-linke and the global prevalence of all single gene diseases at birth is approximately 10/1000 (WHO, 2012). Thalassaemia is a blood related genetic disorder which involves the absence of or errors in genes responsible for production of haemoglobin, a protein present in the red blood cells while sickle-cell anemia is a blood related disorder that affects the haemoglobin molecule, and causes the entire blood cell to change shape under stressed conditions (Weatherall, D. J., 2000). Haemophilia is a hereditary bleeding disorder, in which there is a partial or total lack of an essential blood clotting factor, lifelong disorder, that results in excessive bleeding, and many times spontaneous bleeding. Haemophilia A is the most common form, referred to as classical haemophilia. It is the result of a deficiency in clotting factor 8, while haemophilia B is a deficiency in clotting factor 9, a sex-linked recessive disorder (WHO, 2012).

Cystic Fibrosis is a genetic disorder that affects the respiratory, digestive and reproductive systems involving the production of abnormally thick mucus linings in the lungs and can lead to fatal lung infections. The disease can also result in various obstructions of the pancreas, hindering digestion (WHO, 2012). Tay-Sachs disease is a fatal genetic disorder in which harmful quantities of a fatty substance called ganglioside GM2 accumulate in the nerve cells in the brain (WHO, 2012). This is caused by a decrease in the functioning of the hexosaminidase A enzyme. The Fragile X syndrome is caused by a "fragile" site at the end of the long arm of the X-chromosome. It is a genetic disorder that manifests itself through a complex range of behavioral and cognitive phenotypes (McMillan, J., 2006).

20.5. Nutrigenomics and communication

Nutrient-gene interactions are responsible for maintaining health and preventing or delaying disease. Unbalanced diets for a given genotype lead to chronic diseases such as obesity, diabetes, cardiovascular, and are likely to contribute to increased severity and/or early-onset of many age-related diseases. Many nutrition and many genetic studies still fail to properly include both variables in the design, execution, and analyses of human, laboratory animal, or cell culture experiments (Kaput, J., 2006). The complexity of nutrient-gene interaction has led to the realization that strategic international alliances are needed to improve the completeness of nutrigenomic studies, a task beyond the capabilities of a single laboratory team. Eighty-eight researchers from twenty two countries recently outlined the issues and challenges for harnessing the nutritional genomics for public and personal health. The next step in the process of forming productive international alliances is the development of a virtual center for organizing collaborations and communications that foster resources sharing, best practices improvements, and creation of databases. There is a requirement of nutrigenomics information portal, a web-based resource for the international nutrigenomics society. This portal aims at becoming the prime source of information and interaction for nutrigenomics scientists through a collaborative effort (Kaput, J., 2006).

20.6. Nutrigenomics and bioactive nutrients

20.6.1 Elk Antler Velvet

Elk Antler Velvet (EAV) is the fast -growing, soft cartilaginous tissue that develops out of the frontal bone of the Cervus species (which includes elk, deer, caribou, wapiti and reindeer) that rises from skin covered pedicles before it calicifies and hardens. Antlers are unique in nature and different from horns because they are naturally re-grown and cut off each year. Elk antler velvet, pumped tight with blood and pulsing with hormones, is the most regenerative mammal tissue known, capable of growing over half an inch in one day.

The increased energy, improved movement, enhanced resistance to disease, increased blood flow, promotion of rapid healing in tissues and bones, relief of symptoms in arthritis and gout, and pain reduction associated with disease or injury to muscles and joints. Active ingredients have been found to include a variety of minerals, proteins, collagens, fatty acids, and glycosaminoglycans (GAG) in varying concentrations.

EAV is an excellent, renewable source of chondronitin sulfate (CSA), glucosamine sulfate, type II collagen and prostaglandins. The research shows the benefits for joint maintenance and specifically arthritis. They have exhibited the ability to restore the integrity to the joints, prevent and repair damage to and breakdown of cartilage and collagenous tissues, reduce inflammation and pain and protect and maintain the synovial membranes and fluids. One study showed type II collagen to significantly reduce pain and swelling 80 percent of participants with juvenile rheumatoid arthritis. Another study from China demonstrated accelerated bone fracture healing by stimulating chondrocytes (cartilage producing cells) and osteoblasts (bone synthesizing cells). Other studies show these and other components have a variety of healing contributions.

Polymeric-N-acetyl-glucosamine accelerates wound healing by as much as 42 percent by stimulating epidermal growth factor (EGF). In a double-blind study, Pantrocrine, a specific extract of EAV, significantly aided recovery from cervical injuries while use in animal studies enabled quick recovery from whiplash-like injuries. In addition, Dr. James Suttie, a New Zealand researcher, discovered neutrotrophin , a powerful nerve growth factor, in EAV.

A variety of cardiovascular benefits have been confirmed, including CSA is reversing arteriosclerosis and dramatically improving circulation. Dr. Lester Morrison reports that for some, CSA may reduce incidence of fatal heart attacks and strokes by over 400 percent. Increasing the formation and oxygen carrying capacity of red blood cells, strengthening the pulse, reducing blood clotting, and lowering of cholesterol have all been evidenced by research on EAV.

20.6.2 Vegan Chyawanprash

This formula has a basis in one of India's most famous anti-aging recipes i.e. Chyawanprash. According to Ayurveda, Chyawanprash comes under the category of 'Rasayana' which aims at maintaining youthfulness, vigor, vitality of the body and keeping away aging process, senility and debility. It maintains the proper functioning of the cells and rejuvenates the cells and also keeps away diseases. The Rasayanas are mean to impart long, healthy, disease free life, intelligence, power of memory, youth and luster. It is the most popular rejuvenating Ayurvedic tonic in India having a consistency of Jam and consisting of about 35 natural herbs including Amla (Embellica Officinalis) the richest natural source of vitamin C, works on the immune system of the body protecting body against everyday infections like cough cold and fever and thus it is very useful in children, old persons, tubercular patients and debilitated persons.

20.6.3 Mangosteen

Mangosteen is carefully cultivated from an organic farm in Thailand under the most stringent conditions for this amazing superfood. Only the pericarp is taken and carefully dried & powdered under a special process that best preserves the active ingredients, contains a class of naturally occurring polyphenolic compounds known as xanthones which provide beneficial effects on cardiovascular diseases, including ischemic heart disease, atherosclerosis, hypertension, and thrombosis. Xanthones, have unique antioxidants have properties which help to heal cells damaged by free radicals, slow aging, and ward off degenerative diseases and physical and mental deterioration. The rind of partially ripe Mangosteen fruit yields a polyhydroxy-xanthone derivative termed mangostin, also beta-mangostin. That of fully ripe fruits contains the xanthones gartanin, beta-disoxygartanin, and normangostin and many of the other health benefits of Xanthones from Mangosteen pericarp is beneficial in various serious ailments like anti-fatigue, anti-obesity, anti-depression, anti-anxiety, anti-vertigo (dizziness), anti-Alzheimer's, anti-Parkinsonism, anti-allergenic, anti-seborrheic, anti-glaucoma, anti-pyretic, anti-diarrhea, anti-periodontic, spasmodic, anti-neuralgia, anti-arthritis, anti-inflammatory and anti-ulcer. Mangosteen fruit also shows vasorelaxant properties and with Mycobacterium tuberculosis (TB) and Staphylococcus aureus bacteria, Mangosteen has shown inhibitory action against these harmful bacteria organisms in addition to its antibacterial, strong antifungal properties and effective in boosting weak immune systems. 

20.6.4 Polyatomic Oxygen

Oxygen molecule (normal oxygen is O2 - two oxygen molecules covalently linked side by side) can inactivate harmful pathogens and boost the immune system. When oxygen is produced in such a way that there are many varieties of oxygen - O2, O4, O6, O8 and O10, it is known as Polyatomic Oxygen.

"As O2, O3, O4 & O8 has already demonstrated its efficacy in therapy applications as a germicidal, anti-microbial, anti-bacterial, anti-fungal, anti-parasitic, anti-protozoal, anti-pathogenic & virucidal agent in human in-vivo therapeutic applications, intra- & extra- cellularly, it is imperative that the extensive research conducted to date be made available to demonstrate the phenomenal healing potential of these atomic structures of Oxygen as no micro-organism, pathogen or virus can be exempt from oxidation, ionisation, philli-electric (electro-chemical) interchanges and the denaturing of proteins. Microbial resistance is not possible with Polyatomic Oxygen Therapy unless the RNA and microbial mechanisms develop suits of 'Teflon' armour and anaerobic microbes, pathogens and viruses cannot evolve a 'natural immunity' to oxygen allotropes.

20.6.5 Kaunch

Kaunch is a seed herb used in Ayurvedic medicine which increases testosterone, increases libido, reduces spasms, lowers blood sugar, lowers blood pressure, increases urination, relieves pain, reduces inflammation, kills parasites, calms nerves, reduces fever, lowers cholesterol, also used as an aphrodisiac, spermatogenetic, androgenic, retentive, L-Dopa alternative, menstrual promoter, uterine stimulant, nerve tonic, anti-Parkinson's, hypoglycemic, anabolic etc and also produces an antidepressant effect in patients suffering from depressive neurosis. Due to the high concentration of L-dopa in the seeds, it has been studied for its possible use in Parkinson's disease and now being considered as an alternative to the pharmaceutical medication levodopa. It also has reported with anabolic and growth hormone stimulant properties. The anabolic effect of the seed is due to its ability to increase testosterone. In 2002, a U.S. patent was filed on the use of Kaunch to stimulate the release of growth hormone in humans.

20.6.6 Blue Lotus Flowers

The Blue Lotus was traditionally used to relieve pain, increase memory, increase circulation, promote sexual desire, and creates feelings of well-being, euphoria and ecstasy, without the use of narcotics, containing aporphine and nuciferine, natural alkaloids and used as a hypnotic, sedative, euphoric and anti-spasmodic and also produces an opiate-like intoxication. Traditionally, Nymphaea caerulea was drunk after being soaked in warm water or wine, while also smoking the dried flowers. According to recent studies, Blue Lotus (Nymphaea caerulea) was found to be loaded with health-giving phytosterols and bioflavonoids and turned out to be one of the greatest daily health tonics ever found. Egyptian medicinal practitioners also used this flower to stimulate blood flow, and as an anti aging treatment.

20.6.7 Shilajit

Shilajit is a thick rich paste oozing out from the rocks in the towering cliffs in the Himalayan Mountains, one of Ayurvedas most potent and unique rejuvenatives which attributes many health benefits to Shilajit known as conqueror of mountains and destroyer of weakness. It has been used historically for general physical strengthening, anti-aging, blood sugar stabilization, libido, injury healing, urinary tract rejuvenation, enhanced brain functioning potency, bone healing, kidney rejuvenation, immune system Strengthening, arthritis, hypertension, obesity and many other application for numerous conditions. In Sanskrit the literal meaning of Shilajit is Rock Like - the power to make our body like a rock enabling it to withstand the ravages of time. Shilajit has that unmatched powers of arresting and reversing the aging process.

Shilajit is commonly referred to as Indian Viagra, also counteracts Diabetes and regulates the blood sugar level with purifies blood and improve functioning of pancreas and strengthen digestion and promotes the movement of minerals, especially calcium, phosphorous, and magnesium into muscle tissue and bone also stimulates the immune system and Improves restoration after exercise so counteracts debility and general fatigue.

20.6.9 Folate

A gene variant is responsible for increasing homocysteine levels in some people, subsequently leading to a higher risk of cardiovascular diseases and certain cancers. Folate, however, helps to negate this risk. Therefore, people with this identified gene variant are encouraged to consume plenty of folate-rich foods (Yang, Q.H., 2008, Pfeiffer, C.M., 2008).

20.6.10 Green tea

It is used in Crohn's disease (Alic, M., 1999), on thermogenesis and energy intake (Belza, A., 2009) , human prostate cancer (Bettuzzi, S., 2006) , gastrointestinal cancer (Borrelli, F., 2004) , skin problems (Katiyar, S.K., 2000), on weight maintenance after body-weight loss (Kovacs, E.M., 2004) reduces body fat and cardiovascular risks (Nagao, T., 2007) help prevent breast cancer (Inoue, M., 2001)

20.6.11 Tumeric

The turmeric is used for Anti-inflammatory (Arora, R.B., 1971), management of neurodegenerative disease (Auddy, B., 2003), on lipid profile (Desphande, U.R., 1997), Cancer chemoprevention (Gescher, A.J., 2001), specific inhibition of cyclooxygenase-2 (COX-2) expression by dietary curcumin in HT-29 human colon cancer cells (Goel, A., 2001) and inhibition of HIV-1 and HIV-2 proteases (Sui, Z., 1993) with antidepressant activity (Yu, Z.F., 2002). Turmeric suppresses a gene that makes inflammatory properties, which is possibly useful in preventing colon cancer and Alzheimer's disease.

20.6.12 Vitamin D

Vitamin D is the sunshine vitamin, synthesized in our skin during sun exposure and most relevant dietary sources of vitamin D are fatty fish and full-fat milk. There are many health risks related to vitamin D deficiency like osteoporosis, rickets, increased cardiovascular disease mortality, increased risk of type 1 diabetes, cancer, multiple sclerosis, infection, allergy and asthma. Heritability of blood serum vitamin D levels is estimated to be 30-80%. The first published study by Ahn et. al found strongest association with SNP close to  group-specific component (GC) gene. The carriers of two copies of the risk allele had about 20 % lower 25(OH) D levels compared to those with no risk alleles and the GC gene encodes vitamin D-binding protein (DBP). Most of the vitamin D in blood (80-90%) is bound to this protein and transported all over the body to the target organs. Variations in two more genes (DHCR7 and CYP2R1) have been confirmed for Caucasians and both genes are coding key enzymes in vitamin D metabolism pathway (Teresa, Kulie, 2009).

20.7 Ethical consideration in nutrigenomics

Nutrigenomics lies at the intersection of several ¬elds in which ethical, legal and social issues (ELSIs) arise like human genomics and genetics, the molecular nutritional sciences, dietary supplement research and development, medicine and dietetics. As each of these ¬elds progress, periods of regulatory uncertainty are often encountered and emerging ethical, legal and social issues must be identi¬ed and addressed. With growing investments in human genomics research, much attention has focused on ethical and legal protections for research subjects, including concerns about study design, the collection, use, retention and exchange of biological samples and personal information, the involvement of children or other vulnerable groups, and the obligations of researchers to report results to research subjects and their family members (David, Castle, 2007). The 'biohype' around the nutrigenomics foods and nutrigenetics tests are imminent and unavoidable, particularly in the early stages of evolution of a new idea. Practically, 'biohype' is already taking place through the aggressive marketing of nutrigenomicstests to the public, which many consider to be premature, raising concern over ELSIs. Five areas have been identified by international experts in the context of both basic nutrigenomics research and its clinical and commercial uses: i) health claims benefits arising from nutrigenomics, ii) managing nutrigenomics information, iii) delivery methods of nutrigenomics services, iv) nutrigenomics products, and v) equitable accessibility to nutrigenomics. Hence it is important to elevate the depth of debate to understand and management of this 'biohype' on diet- gene interactions using evidence-based research methodologies (Ghosh, Dilip, 2009).

Personalized nutrition (tailoring diet on the basis of genotype) is one possible application of nutrigenomics research. However, until the scientific evidence concerning diet-gene interactions is much more robust, the provision of personalized dietary advice on the basis of specific genotype remains questionable. From the ethical and social perspective, nutrigenomics offers significant opportunities to improve public health by enhancing understanding of the mechanisms through which diet can be used to reduce the risk of common polygenic diseases (Bergmann, M.M., 2008).

Nutrigenomics is thus surrounded by internal and external uncertainties and it is for end-users wise to better prepare themselves for a genomics future with fundamental uncertainties than to expect that in the long run the uncertainties will disappear. The issue of uncertainties of genomics has been tackled earlier, e.g., from the perspective of policy making, science management and theory of science. Here we will concentrate on the impact of the uncertainties of nutrigenomics on citizen/consumers by exploring the fruitfulness of an ethical perspective that focuses on how citizens/consumers' cope with fundamental uncertainties (Michiel, Korthals, 2010). In terms of global health, the complexity of potential prevention measures based on nutrigenomics knowledge, but also ethical issues relating to social justice and to the risks of stigmatization and discrimination are major challenges on which this paper focuses. While such issues are not unique to nutrigenomics, they appear with a particular strength when it comes to assess the promises of this new field of science (Godard, B., 2009).

Market implication of nutrigenomics

The key market implications of nutrigenomics may be for the peoples with specific issues such as obesity, diabetes, cardiovascular disease and cancer will need medical foods and dietary advice tailored to their genetic profile and wants the foods that reduce the risk of allergy and intolerance or new foods to re-set nutrition switches. Personalized functional foods and wellness and performance foods that enhance normal physiological processes, foods that enhance sports performance and Mood foods manufacturing is the real implication of nutrigenomics (Lynn, Ferguson, 2012). Nutrigenomics may be used for in-vitro screening for new functional food bioactive, quality and authenticity of food in microbials, food processing in microbials, production of food ingredients from microbials and biomarker discovery for humans with genotyping of humans, safety testing in animals and Efficacy testing in animals.