ANVESHANA MULTI FACTORIAL GENETIC DISORDERS AN INSIGHT FROM AYURVEDA. Koulme D. G. 1, Sawalagimath M. P 1, Babu Harish H. 2.

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1 ANVESHANA Review Article AYURVEDA MEDICAL JOURNAL ISSN: MULTI FACTORIAL GENETIC DISORDERS AN INSIGHT FROM AYURVEDA Koulme D. G. 1, Sawalagimath M. P 1, Babu Harish H. 2 1 Reader of Agada Tantra, KLEU S BMK Ayurveda Mahavidyalaya, Belgaum, Karnataka, India 2 Asst. Prof. of Agada Tantra, Bapuji Ayurvedic Medical College, Challkere, Karnataka, India Corresponding Author: babuharish50@gmail.com ABSTRACT Present era has witnessed the conundrum for multiple complex diseases due to altering lifestyle has resulted of low immunity and reduced life span. Multi factorial gene disorders (MFGD) are those which occur in the DNA of individual cells which are influenced by the environmental factors which are called as teratogenic agents. Cleft lip/palate, club foot, and congenital heart diseases seen at birth where as coronary artery diseases, Diabetes mellitus, cancer and psychiatric disorders such as schizophrenia are seen in later life. Low potent poisons & Artificial poisons - Dooshivisha and Gara visha are unique concepts in Ayurveda, in which combinations of poisonous or non-poisonous articles when consumed for a longer period cause toxic manifestations in the body. If Garbhini follows such nidana; an unutilized metabolic product which settles in the body for a longer duration creates many diseases which may affect the garbha leading to various disorders like kushta, madhuumeha. Key words: Beeja Dushti, Dooshi Visha, Garbhopaghatakara bhava, Multifactorial genetic diseases INTRODUCTION Earlier 19 th century was considered as Era of Infections, where majority of the mortality of the population was due to infections. But after 19 th century, the present Era is being considered as Era of Lifestyle disorders, where majority of mortality is due to Lifestyle disorders. 1 The World health Organization (WHO) has identified India as one of the nations that is going to face such disorders in the near future. 2 The main factors contributing to lifestyle diseases include bad food habits, physical inactivity, wrong body posture, and disturbed biological clock. Thus Life style, Environmental factors, sleep habits and Exercise all these play a crucial role in the pathology of Multifactorial genetic disorders (MFGD). Ayurveda, the science of Healing, always emphasized on the lifestyles as Dinacharya, Ritucharya, about the Ahara Vihara, good health and states that, one who fails in following these or does wrongly lands himself into the diseases. Thus in this paper, an attempt is made to understand the multifactorial genetic disorders arising due to improper lifestyle, in the light of Ayurveda which has already explained under different circumstances thousands years ago. Multi-factorial Genetic Disorders: Heredity is the passing of characteristics (traits) from parents to

2 offspring through genes. A genetic disorder is an illness resulting from abnormalities in genes or chromosomes, particularly a condition that is present from before birth. Abnormalities can vary from a small mutation in one gene to the addition or subtraction of an entire chromosome or set of chromosomes. 3 Most genetic disorders are extremely rare and affect one in every few thousand or millions of people. Multifactorial inheritance disorders are malformations and diseases, which are caused by a combination of genetic and environmental factors. Multifactorial genetic disorders can be understood as which occur in the DNA of individual cells at some time during a person s life which are influenced by the environmental factors and such lifestyle (Sedentary). They can be grouped under lifestyle disorders and tend to run in families. Environmental factors are the other factors involved in the development of multifactorial inheritance disorders may be internal such as aging or external such as diet, lifestyle, and exposure to chemical, toxins, radiation, drugs, and viruses. 4 Role of environmental factors in the pathogenesis of MFGD: Diseases in those genetically predisposed to a particular condition are influenced by Stress, physical and mental abuse, diet, exposure to toxins, pathogens, radiation, and chemicals which are found in almost all personal care products and household cleaners. 5 If they are used for longer duration and exposed to those, then they alter the gene structure and such resultant will produce pathology in the body depending upon the nature of toxins to which they are exposed. Incidence and Prevalence of MFGD: There are more than 6000 known genetic diseases are identified.acc to various industry sources, of the 4 million births in the world each year, 3% to 4% will be born with genetic defects or major birth defects. More than 20% of infant deaths are caused by birth defects or congenital defects like congenital heart diseases, abnormalities of nervous systems, or chromosomal diseases, 10% of adults and 30% of children are following the hospitals are due to genetic diseases. Characteristics features of MFGD: MFGD has a combination of distinctive characteristics which differentiates these diseases from the sex linked inheritance or Mendelian diseases. They are: These diseases can occur in isolation, with affected children born to unaffected parents. Although familial aggregation is also common (i.e. there may be multiple cases in the same family), there is no Mendelian pattern of inheritance. Environmental influences can increase or decrease the risk of the disease. The disease usually occurs more frequently in one gender than in the other, but it is not a sex-limited trait and probability is very much high in first degree relatives. The concordance rates in monozygotic and dizygotic twins contradict Mendelian proportions. These are the diseases which are more frequently in a specific ethnic group(i.e. Caucasians; Africans, Asians, Hispanics, etc). 6 Classification: These can be broadly classified into congenital, which are developed during embryonic development and seen from birth and Non congenital, which are the disorders seen during a later part of life. Table 1: Classification of MFGD Congenital Diseases (Developed during Embryonic Life) Cleft lip/palate, Congenital hip dislocation, Congenital heart defects, Neural tube defects, Pyloric stenosis, Talipes etc. Non Congenital Diseases (which are seen during later part of life) Diabetes mellitus Epilepsy, Glaucoma, Hypertension, Ischemic heart disease, Maniac; depression, Schizophrenia.etc. 7 AAMJ / Vol. 1 / Issue 2 / Mar Apr

3 Outlook of MFGD in Ayurveda: How lifestyle disorders can be understood in Ayurveda? Human body (Shareera) is the abode of Dosha, Dhatu, Mala, which is the main entity responsible for the health (swasthya) and even for the Diseases (Vyadhi), in their Normal and abnormal conditions respectively. Factors which are responsible for the vitiation of these dosha s are called as Nidana (etiological factors). 8 These Nidana may be Aharaja (Through Food articles) or Viharaja (through daily activities). If the vitiation is severe and chronic then dosha s settle in the deep dhatus (Tissues) which are not only difficult to cure but sometimes even run through the families also. Environmental factors are the main grounds for the manifestation of the Multifactorial diseases along with default genes. Thus environmental factors like life style, food habits, sleep, exercises etc are vital in deciding the progression of pathology into disease. This principle is the main core of Ayurveda which explains it as Nidana which may be either Shaarerika or Manasika. The concept of genetic inheritance is well explained in Ayurveda and hassles that even the Beeja dosha of either mother side or from father side will run in the progeny and will produce suitable diseases if that progeny follows ahita aahara and vihara. MFGD can be understood in the following ways: a. Beeja dosha- defects in Shukra or shonita (gametes) b.garbha dushti- Defects in the embryo (congenital malformations) c. Sahaja/kulaja vyadhi d. Viruddhahara e. Dooshi visha and Garavisha- concept of cumulative toxicity. Beeja Dushti (Shukra, Shonita): Defects in the Gametes (sperm or Ovum)-MFGD मस म मस म ह अवमवस म फ ज फ जब ग व द ष प रक ऩभ ऩध मन त, त तभवमव ववक र ततय ववशमतत मद ह मस म श णणत गबभशम फ जब ग प रद षभ ऩध मत, तद वन ध म जनमतत, मद ऩ नयस म श णणत गब भशफ जब ग वमव प रद षभ ऩद मत, तद ऩ ततप रज जनमतत; मद त वस म श णणत गब भशमफ जब ग वमव स र कय ण च शय यफ जब ग न भ कद श प रद षभ ऩध मत, तद स म क र ततब तमष ठ म स त स रम व त भ न भ एवभ व ऩ र षस म मद फ ज फ जब ग प रद षभ ऩध मत, तद वन ध म जनमतत; मद ऩ नयस म फ ज फ जब गव मव प रद षभ ऩध मत, तद ऩ ततप रज जनमतत, मद त वस म फ ज फ जब ग वमव ऩ र षकय ण च शय य फ जब ग न भ एकद श प रद षभ ऩध मत,तद ऩ र ष क र ततब तमष ठऩ र ष त णऩ त ररक न भ. (cha.sha.3/31, 32 shloka; Teeka) Faults may be seen at three level, and deformity/diseases may seen based on the level, At the beeja level (factors affecting entire garbha embryo?); at the level of beeja bhaga( factors affecting the beeja bhaaga - nucleus??); and at the level of bheeja bhaaga avayava (at the level of chromosomes?). If there is a default in the factor responsible for genesis of garbhashaya, then the child born will be a primary impotent. If, the dosha default is artial in factors of garbhashaya then the lady will have faulty garbhashaya and can only give birth to pooti praja (defective child?); or if the fault is in the factors which are responsible in sex predominance, then the child will have a female structure but actually will not be a female. Similarly in men also, these disorders are can occur, these persons and progeny evolved from these will carry such genes and leads to such conditions in future also. 9 Thus, the Garbha, which is a combination of such shukra and shonita will leads to dooshita garbha. 10 तर, आददफरप रव र त त म श क रश णणतद ष न वम क ष ठ शभ प रभ र तम ; त अवऩ द ववववध भ र ज वऩर ज श च Kushta (skin disorders); Arshas (haemorrhoids), Meha (Diabetes?), Kshaya (degenerative conditions) etc are the diseases which are called as Aadibala pravrutta vyadhi, which are of two types- paternal and maternal. 11 AAMJ / Vol. 1 / Issue 2 / Mar Apr

4 Garbha Dushti and MFGD: जन भ फरप रव र त त म भ त यऩच य त ऩड ग ज त मन धफधधयभ कमभम स तन भनव भन प रभ र तम ज मन त ; त अवऩ द ववववध यसक र त ; द ह र द ऩच यक र त श च (स.स. २४/५, ढल हण ट क ) Even if shukra and Shonita are normal, but during the pregnancy period, if the garbhini is exposed to some risk factors which are potent to cause the MFGD, then the child be carrying such disorders. Thus such diseases are of two types Rasa pradoshaja and Dauhruda avamaana janya vyadhis. 12 Congenital Birth Defects: गब व त प रक ऩ ण द ह र द व अवभ तनत बव त क ब ज क णण ऩड ग भ भक मभम स तन भण एव व (स.श.२/५१) Garbha gets nourishment through Garbhini, hence any apachara done by garbhini (pregnant) will not only affects her health but also affects her child. If the toxic exposure is so severe then the garbha may have defects since birth also. Many potential toxins or even the medicines 13 Sahaja/ Kulaja Vyadhi: (Concept of Familial running tendencies) Faulty genes which tends to run in the family and evolve as disease/deformities in later stage, is the main feature of MFGD and this is clearly explained and described in Ayurveda in many conditions. प रभ ह अन षड धगण भ (च.स.२५) 14 क रज इततवऩर वऩत भह ददस ब त एत नप रभ दहवऩर वऩत भहभ त भहस म वऩ प रभ हभस ध म दशभमततफ जद ष ददतत प रभ ह य बक द ष द ष ट फ ज ज त प रभ दहत व त (ववजमयक ष त ट क - भ धव तनद न ३३ / २२) 15 Prameha, is a disease which tends to run in the family, by either from the paternal side or even from the maternal side. Or it may not be present in the family, but due to the fault in the part of beeja (chromosomes??) which are responsible for the prameha. 16 Viruddha Ahara: मत ककम स तन चत द षभ स र वम न तनहभयतत क मत आह यज त तत सवभदहत म ऩऩध मत च.स.२६/८५ 17 द षफरप रव र त त म आतड कसभ त ऩन न मभथ म ह य च यक र तश च (स.स. २४/५, ढल हण ट क ) द हध त प रत मन कब त तन द रव म णण द हध त मबभववभय धभ ऩध मत ; ऩयस ऩयग णववर द ध तन क तनधचत, क तनधचत स म ग त, स स क य दऩय णण, द शक रभ र ददमबश च ऩय णण, तथ स वब व दऩय णण च.स.२६/८१ Viruddha Ahara can be broadly defined as the food articles which are sometimes due to their combination, or due to their guna (qualities), due to method of processing or preparing, or in wrong time, quantity of in wrong place/person, produces ill effects which are contradictory to the normal dosha, dhatu, and their equilibrium. Thus they vitiate these dosha s when consumed but fails to eliminate them. They are called as viruddha ahara and results in many complications and even fatal sometimes. The main reason for the metabolic diseases in this era is due to irrational consumption of junk foods, oil fried items, or due to less nutritive foods and mainly due to not following any rules while eating. Diabetes, obesity and cardiac diseases (mainly atherosclerosis) are prevalent diseases which are due to consumption of such foods. ष ण ढ म न ध मव सऩभदक दय ण ववस प टक न भ दबगन दय ण भ भ र भद ध भ नगरग रह ण ऩ ण ढड व भमस म भववषस म च व १०२ ककर सक ष ठग रहण गद न श थ रवऩत तज वयऩ नस न भ सन त नद षस म तथ व भ त म ववभर द धभन न प रवदम स तन त ह त भ १०३ (च.स.२६/१०२-१०३) सन त नद ष म र तवत सत व दद (चक रऩ णण ट क ) Following are the diseases which are commonly seen if a person keeps on consuming such viruddha ahaara they are - Shandya (impotent); Aandhya (loss of vision); dakodara (ascites?); unmaada; Bhagandahara (fistulae?); skin diseases; Digestive disorders (grahani, Amlapitta); fever, rhinitis, and Santaana dosha (Habitual abortions) and if severe death also occurs. Thus Ayurveda also stresses about Ahita Ahara which leads to viruddhatwa and causes many MFGD in compromised individuals. Dooshi Visha and Gara Visha: (Concept of Cumulative Toxicity) Dooshi visha and Garavisha can be understood in terms of cumulative toxicity. When a potential toxin, either neutralized or AAMJ / Vol. 1 / Issue 2 / Mar Apr

5 given in a very small doses, which after entering into the body doesn t produces fatality but damages the body based on its affinity. If such repeated exposure occurs then the damage continues and results in many disorders. So, such potential toxins will affect not only that individual but that toxicity is carried out to their progeny also. उन भ दभन मज जनम त तथ अन मद आन हभन मत ऩम त च श क रभ ग द गद मभन मत जनम त च अन मत च क ष ठ त स त न ववक य श च फह प रक य न ३२ भ.तन Many occupational diseases come under such exposure among most of the time asthma, hypertensions, IBS etc are common, if the exposure is continuous and they tend to run in the families also. द ष ववषभस ध म स म त णस म दहत स ववन ३४ Such diseases are still difficult to handle if the person is indulging in Ahita ahara vihara. त स म त ऩ ण ढड क र श अल ऩ म स तननगभयश च स म ऩज मत भभभप रधभन ध भ न हस तम श थर णभ ३६ जठय ग रहणणद ष मक ष भ ग ल भ म ज वय Resulting into paandu (Anemia); krusha (debilitating disorders); agnimandya (loss of appetite); Aadhmana, hasta paada shotha; jathara dosha; grahani; gulma; kshaya; jwara; yakshma etc. CONCLUSION Apart from the faulty gene s, Environmental factors are the main culprits in the manifestation of Multi-factorial genetic diseases. Thus they play a vital role in deciding whether a disease should manifest or progress or suppress based on the type of exposure. Hence due to irrational use of food articles, due to sedentary lifestyles, pesticides, potential toxins, teratogens etc human population is always in a threat of MFGD. Ayurveda highlights the importance of longevity based on the Hita and Ahita Ahara only and explains about MFGD as Beeja dushti in a fresh couples who are following such Ahita ahara vihara and explains the importance of gestation period in which most of the genetic faults can happen due to exposure to potential toxins as dauhruda avamana janita vyaadhi or rasa pradoshaja vyadhi and results in many congenital diseases. The same diseases are called as sahaja/kulaja vyadhi in individuals who carry such diseases from families and aetiologies for such diseases are detailed under Viruddha ahara, Dauhruda apacharaa, Dooshi visha and Gara visha etc. Thus it is very essential to understand the MFGD in purview of Ayurveda which helps us to find out possible mechanism from which a disease (MFGD) can occur apart from genetic imbalance. Offers chance to control such factors and can either suppress/control the existing condition or can delay the forthcoming disease by following charyas explained in Ayurveda. REFERENCES 1. Anand Swaroop, Emily Y. Chew, Catherine Bowes Rickman, and Gonc alo R. Abecasis4; Unravelling a Multifactorial Late-Onset Disease: From Genetic Susceptibility to Disease Mechanisms for Age-Related Macular Degeneration; Annu. Rev. Genomics Hum. Genet : G.Mark Lathrop; Joseph D Terwillger; Daniel E. Weeks; Multifactorial inheritance and Genetic Analysis of Multifactorial diseases; Principles and Practices of Medical Genetics; p. 3. Centre for Genetics Education.; Environmental and Genetic Interactions Complex Patterns of Inheritance. 4. Natalia. Gavrilova. Gavrilov genetic influences-later life; encyclopedia of the life course & human development; Anthony M. Pasek; Rodger Tepe; Genetics, Epigenetics and Disease A Literature Review; senior research project; August 11, AAMJ / Vol. 1 / Issue 2 / Mar Apr

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