REVIEW ARTICLE
Year : 2022 | Volume
: 9 | Issue : 2 | Page : 55--60
Concept of genetic disorders in Ayurveda and their prevention
Bishnu Choudhury1, Jitendrakumar Nathabhai Varsakiya2, Vijay Kumar3, Neeta Mahesekar4,
1 Department of Kayachikitsa, North Eastern Institute of Ayurveda and Homoeopathy, Shillong, Meghalaya, India
2 Department of Kayachikitsa, Chaudhary Brahm Prakash Ayurved Charaka Samsthan, New Delhi, India
3 Department of Swasthavritta and Yoga, North Eastern Institute of Ayurveda and Homoeopathy, Shillong, Meghalaya, India
4 Department of Director, North Eastern Institute of Ayurveda and Homoeopathy, Shillong, Meghalaya, India
Correspondence Address:
Bishnu Choudhury
Department of Kayachikitsa, North Eastern Institute of Ayurveda and Homoeopathy, Shillong - 793 018, Meghalaya
India
Abstract
The most basic prerequisite for any nation's affluence is healthy progeny. Congenital/hereditary disorders have a serious effect on a person's health. A study on genetic disorders exposes that 3%–5% of all births result in congenital deformities and 20%–30% of all infant deaths are due to genetic disorders. Even though science is advancing at a fast pace, there is still some lack of certainty about the underlying cause of these diseases, as well as their prevention and management. In Ayurveda, the concept of congenital diseases is comprehensively discussed by Sahaja Roga, Kulaja Roga, and Adibala Pravritta Roga, and Janmabala Pravrutta Roga. The antenatal causes, preventive measures, and types of diseases have been discussed explicitly. The importance of Shad-Garbhakara Bhavas (six pro-creative factors) such as Matrija (maternal), Pitrija (paternal), Atmaja (soul), Rasaja (nutritional), Satmyaja (wholesomeness), and Sattvaja (psyche/mind) for the creation of healthy progeny has been described in Ayurvedic texts. The conjunction of these pro-creative factors is considered necessary for healthy progeny. The physical, mental, social, and spiritual well-being of both the parents during pregnancy and the practice of a wholesome regimen play a significant role in ensuring a healthy offspring. Nonconsanguineous marriage, appropriate age of marriage, and conception are also described in Ayurvedic text as preventive for genetic disorders. Considering the seriousness of the issue and knowledge gap, we review to comprehensively encapsulate the concept, diversity, and preventive aspects of genetic disorders described in Ayurveda as well as its understanding in contemporary science.
How to cite this article:
Choudhury B, Varsakiya JN, Kumar V, Mahesekar N. Concept of genetic disorders in Ayurveda and their prevention.AYUHOM 2022;9:55-60
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How to cite this URL:
Choudhury B, Varsakiya JN, Kumar V, Mahesekar N. Concept of genetic disorders in Ayurveda and their prevention. AYUHOM [serial online] 2022 [cited 2023 May 30 ];9:55-60
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Full Text
Introduction
Congenital anomalies (birth defects) can be defined as structural or functional anomalies (e.g., metabolic disorders) that occur during intrauterine life and can be identified prenatally, at birth, or later in life. Congenital anomalies are also known as birth defects, congenital disorders, or congenital malformations. A study on genetic disorders exposes that 3%–5% of all births result in congenital deformities[1] and 20%–30% of all infant deaths are due to genetic disorders.[2] As per the World Health Organization, an estimated 240,000 newborns die worldwide within 28 days of birth every year due to birth defects. Birth defects cause a further 170,000 deaths of children between the ages of 1 month and 5 years. Birth defects can contribute to long-term disability, which significantly affects individuals, families, healthcare systems, and societies.[3]
In India, many infants with genetic disorders are born every year; almost half a million with malformations and 21,000 with Down syndrome.[4] Several factors significantly increase the prevalence of genetic disorders in the Indian subcontinent. Consanguineous marriages are a major factor. This custom is common, accounting for almost 30%–40% of marriages among south Indians and Muslims of North India and a smaller percentage among other communities such as the Sikhs and Maharashtrians.[5]
Since the Vedic era, the birth of malformed fetuses has been well documented. Ayurveda described various genetic disorders due to defects in Beeja (sperm, ovum). Beeja (chromosome), Beejabhaga (genes), and Beejabhagavayava (DNA) were described while explaining the morbidity of sperm and ovum.[6]
Ayurveda scholars also explained Shad-Garbhakara Bhavas (six pro-creative factors) such as Matrija (maternal), Pitrija (paternal), Atmaja (soul), Rasaja (nutritional), Satmyaja (wholesomeness), and Sattvaja (psyche/mind) for the birth of healthy progeny. The conglomeration of these procreative factors is a must for healthy progeny. The physical, mental, social, and spiritual well-being of the person, proper nutrition of the mother during pregnancy, and practice of a wholesome regimen play a prime role in achieving a healthy offspring. Negligence toward any of these factors becomes a cause of unhealthy and defective childbirth.[7]
According to Ayurvedic principles, proper preparation of the parents is a vital criterion for a healthy progeny, which includes appropriate Ritu, Kshetra, Ambu, and Beeja. Due to the abnormalities of Beeja (ovum and sperms), Kshetra (uterus), Ritukala (time factor or abnormality of menstruation), and Ambu (dietetics/nourishment including all the hormones), along with the lifestyle of the mother, the vitiated Doshas produce abnormalities in the fetus, affecting its appearance, complexion, and Indriyas. These factors create an environment for mutation and epigenetic changes in the ovum, leading to abnormalities in the fetus.[8]
Hence, an attempt has been made to understand the genetic disorders of Ayurveda and their preventive management strategies through Ayurvedic principles.
Aim and objectives
To study all the aspects of genetic disorders described in AyurvedaTo formulate a protocol for checking such genetic defects.
Material and Methods
This study is based on the literature review of the relevant Ayurvedic original texts with commentaries, necessary and valid interpretations, and the analysis made by different scholars. Electronic databases such as “PubMed” and “Google Scholar” had been searched to find the relevant studies and reviews published from inception until May 2022. Relevant search terms had been used (both Ayurveda and terms related to contemporary medicine) for the search. Abstracts and full-text, open-access articles in the English language were only considered.
Concept of genetic diseases as per Ayurveda
In Ayurvedic classics, genetic disorders are described as Sahaja Roga (hereditary disease), Kulaja Roga (hereditary disease), or Adibala Pravritta Roga (hereditary disease), which are precipitated by flaws in Beeja (sperm, ovum) and are associated with the soul, uterus, time, food, and regimen of the mother. Dosha becomes substantially affected and gives rise to the cognitive deficits of the shape, color, and sensory and motor organs of the offspring. Sahaja Roga means that which is apparent at birth, Kulaja Roga means that which runs in families, and Adibala Pravritta Roga means that which arises from defects in the male and female reproductive attributes. While attempting to explain the morbidity of sperm and ovum, the terms Beeja (chromosome), Beejabhaga (genes), and Beejabhagavayava (DNA) were used.
If a Beeja (sperm) from a male is afflicted, the inheritors may have congenital or genetic anomalies. Shukra and Vayu anomalies and vitiated Vayu located in the Shukra are considered to produce congenital anomalies.[9] Marriages between identical “Gotras” (consanguineous marriages) should be spared, as per Charak Samhita, because they contribute to congenital deformities in children.[10]
In the context of Stree Vyapada[11] and Purush Vyapada,[12] Charak Acharya has mentioned about vitiation of Beeja, Beejabhaga, Beejabhagavayava, and Ekdesha of Beejabhag (nucleotide sequence). Charaka described Tranputrik and Vaarta whose physical appearance is like male and female respectively. By the comparative study of these in the modern perspective, these features closely correspond to Klinefelter syndrome and Turner's syndrome. Even characteristics mentioned in Shandi Yonivyapad[13] correspond closely to Turner's syndrome and its occurrence due to Beejadosha.
In Chikitsa Sthana of Charaka Samhita,[14] Acharyas mentioned that defective Beeja is not able in producing Santati (children). In Nidana Sthana of Sushruta Samhita,[15] Sushruta explained that embryos with major abnormalities are aborted early in pregnancy, and this may occur due to Krimi (viral infection such as TORCH) and Abhighata (physical harm or any teratogenic impact).
Genetic diseases described in Ayurveda
As per Charaka Samhita, obesity could also be attributed to genetic imperfections. Prameha (urological diseases such as diabetes mellitus) has been described as a hereditary disorder[16]Acharya Sushruta cited two types of Prameha: Sahaja (hereditary/congenital), which would be acquired from mother and father due to vitiation of Shukra and Shonita (seed defects), respectively. Patients who are diabetic from birth (congenital) and those born of diabetic parents (hereditary) are not curable due to indisposition in their genes[17]As per Charaka Samhita, there are two categories of piles: hereditary piles and nonhereditary piles. The vitiation of seeds (sperm and ovum), specifically the part of the seed involved in the generation of the anal sphincter, induces hereditary piles. Vitiation of seed is affected by two factors: (a) a poor diet and regimen of the father and mother and (b) the morally reprehensible acts supposedly committed by them[18]Shukragata Kustha, according to Madhav Nidan, is one of the genetically inherited underlying factors implicated in the inherent disease condition in their descendants[19]Acharya Charaka also explains eight birth disabilities: giant and dwarf, obese and thin, hirsute and hairless, albinic, and melanoid (Astha Nindita Purusha)[20]Acharya Charaka has also addressed numerous sexual discrepancies at birth, such as impotence and sexual organ maldevelopment. Klaibya (impotence) is classified into four types based on genetic defects[21]As per Charaka Samhita, Suchimukhi Yonivyapat is the consequence of maternal imperfections.[22] Vayu decimates the ovary due to genetic defects in the female fetus; women have an antipathy to males and a complete absence of breasts. This is widely recognized as Shandi, so it is fatal[23]The genetic makeup of birth situations such as blindness, dumbness, and deafness have been described in the Sushruta Samhita[24]Sushruta referenced the emergence of twins as a theory[25]According to Vagbhata, the dominant characters Shukra and Shonita are in line with the objectives of sex determination[26]Acharya Bhavamishra has also mentioned the abnormality of Shukra as a cause of congenital blindness.[27]
Measures to avoid genetic disorders
The following measures have been described in Ayurvedic classics to remediate the Beejpushti and other underlying factors for procreation. The approaches that must be executed can be used both before and during pregnancy. Ayurveda aims at physical and mental health. Therefore, good counseling using the Ayurvedic principle is required to maintain mental and physical health. There is strong evidence that an optimal diet reduces the frequency of unsuccessful pregnancy complications and severe congenital malformations during the reproductive years, particularly preconception. The male should consume Shali rice with Ghrita (ghee) and milk. Tila Taila and Masha (Black gram) should be consumed by the female during the preconception phase.[28] Black grams included in the preconceptional diet is a rich source of folic acid, proteins, and fibers. Thus, it helps prevent neural tube defects. As it is a potent antioxidant, it helps reduce oxidative stress. Rice contains more carbohydrates, and rice bran contains Vitamin B complex, which is easily digestible. Milk provides calcium. Ghee has properties of imparting strength, improving tonicity, and nourishing the body.[29]
After successful conception, replenishing the woman's diet with Madhura, Sheeta, and Dravya before and during the initial months after conception reduces the risk of fetal neural tube defect and several other congenital malformations, as strongly advised in “Garbhini Paricharya” (Ayurvedic antenatal care) qualities.[30]
Ayurveda Panchakarma therapy provides physical and mental fitness. Recent updates on Panchakarma therapies show significant evidence in curing many disorders as well as for the prophylactic purpose. It also helps keep the hormones at a normal level. These would also help in the removal of endotoxins. The couple should first undergo Shodhana (purification) therapy, starting with Purvakarma (preparatory measures), Snehana (oleation), Swedana, then Vamana (therapeutic vomiting), Virechana (therapeutic purgation), Asthapana (decoction enema), Anuvasana Basti (oil enema), and Uttar Basti for females.[31],[32]
Advice regarding the dos and don'ts
The environment and psychology of a woman should be auspicious and health promotive. She should avoid things contrary to the Indriyas (special sensory faculties) and activities that disturb the mental faculties, suppression of natural urges, thoughts likely to promote anger and fear, and use of articles likely to produce diseases during pregnancy. She should avoid the excessive use of sour/salty/hot/pungent/astringent foods. Right from preconception to full-term delivery, antenatal care will undoubtedly play a vital role in preventing such congenital and genetic disorders.[30],[33]
In Atulyagotriya Adhyaya[10] (nonconsanguineous marriage), it has been mentioned that marriages in two similar “Gotras” should be avoided; otherwise, it leads to congenital deformities in children. It has been observed that some diseases are seen most frequently in children, resulting from marriages between close relatives. The reason for this is that in families transmitting a recessive disease, a majority of normal persons are likely to be heterozygous rather than normal homozygotes. The high rate of traditional consanguineous marriages (in certain tribes, races, and religions) increases the frequency of autosomal recessive disorders. Tribal groups of India have their distinctive genetic makeup. They serve as a unique gene pool, which has evolved in the natural setting over thousands of years. Therefore, they have special health problems and genetic abnormalities such as sickle cell anemia, thalassemia, glucose-6-phosphate dehydrogenase, and red cell enzyme deficiencies.[34]
Various other concepts such as Punsavana Karma[35] (which deals with genetic engineering techniques to ensure healthy progeny and determine the sex of the child) and Atulyagotriya Vivaha (nonconsanguineous marriage) have been described in Ayurvedic classics as essential measures to prevent genetic disorders.
Early age or very late age conception may lead to unhealthy or defective childbirth. It has been mentioned that very young or old women should not be impregnated. If a woman below 16 years is impregnated by a man below the age of 25, either she will not conceive, or if at all she conceives, she will have intrauterine death of the fetus; if the child is born, it will not live long or will have weak organs, ill health, deformed body parts, and so on.[36] Younger women give birth to a majority (80%) of children with Down syndrome.[37] Scientific literature more and more clearly says that the less risky range of maternal age to bear babies is 20–30 years.[38]
Most studies conducted in India have shown that early postnatal mortality is higher in the progeny of consanguineous unions, maybe due to the expression of deleterious recessive genes.[39] Congenital disorders including neural defects and congenital heart defects are more common in consanguineous progeny.[40],[41],[42],[43],[44],[45],[46] Counseling to avoid consanguineous marriage, appropriate age of marriage, and conception needs to follow to get healthy offspring. Modern genetic studies also explained the correlation between immature or advanced maternal age and predisposition to genetic syndromes, especially Down syndrome.[47]
Both Acharya Charaka and Sushruta have proposed the avoidance of Garbhopghaatkar Bhavas during pregnancy.[48] These Garbhopghaatkar Bhavas can be correlated to teratogenous, which is the use of harmful radiation or chemicals/drugs, toxins, alcohol, etc., that cause abnormal development of the embryo.[49]
Discussion
Since ancient times, scholars were aware of the origin of congenital diseases/hereditary diseases and their incurable nature. They emphasized the preventive aspect of these disorders. They have nicely categorized the causes, diseases variety, and the layer of prevention of the problems, considering the gravity of the problem.
Today, medical science has crossed multiple milestones and it is continuously developing. Several observational studies have been conducted to understand the risk factors for congenital disorders. Chromosome abnormalities, mutations with autosomal or X-linked inheritance, vascular disruption, multifactorial inheritance/familial, environmental factors, and complications of the twinning process are some of the highlighted factors responsible for congenital disorders.[50] Maternal pregestational diabetes, hypothyroidism, different acquired maternal infections, prescription drugs, and high-dose radiation during pregnancy are also some of the prominent factors other than chromosomal factors.[51]
Each syndrome may be due to different mutations in the same gene or different genes (genetic heterogeneity). The same mutation may determine different phenotypes (phenotypic variability), even in the same family, about the interference of other genetic and/or environmental factors. In addition, some epigenetic factors are acting during the differentiation processes which may modify the genic expression. Many genetic and environmental factors have the potential to cause nicotinamide adenine dinucleotide deficiency during gestation.[52]
Early detection of diseases, prevention, the natural history of reoccurrences, and prenatal diagnostic opportunities are some of the measures that can be practiced to deal with the situation. Surgeries are also advised in some conditions.[53]
Treatment of existing disease, if any, must be treated properly before conception and during pregnancy. Vaccination, adequate intake of folic acid or iodine through fortification of staple foods or supplementation, proper nutrition, and adequate care before and during pregnancy are the examples of prevention methods.[3]
Conclusion
Birth defects may be the result of one or more genetic, infectious, nutritional, or environmental as well as age factors; it is often difficult to identify the exact causes. Some birth defects can be prevented.
Proper preparation of the parents, according to Ayurvedic principles, is an essential prerequisite for a healthy progeny. Preconception care is a compendium of approaches that recognize biomedical, behavioral, and social risks to the mother's and progeny's health. It encompasses both prevention and management, with an emphasis on preventive issues to be addressed before conception and early pregnancy for optimal results. Before marriage, during the preconception, and during pregnancy, genetic counseling may play a vital role in preventing genetic disorders. Counseling to avoid consanguineous marriage, appropriate age of marriage, and conception needs to follow to get healthy offspring. Although more research is needed to support this assertion made in Ayurvedic classics, the current study provides a framework for future research directions.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
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