The global number of people with inherited genetic disorders has taken its toll. Research has indicated that the structural and functional profile of an individual is highly influenced, by his or her family. The familial bond is so strong that it even decides your genetic makeup and eventually the diseases, with which you will be affected! It has been researched that the impact of mixed genes, inherited from both parents determines the architecture and disease history of an entire body.
If you are really worried about some herited diseases that are common throughout your ancestry, and wish to understand that your children or grandchildren will get it too?Then it is always advisable to understand pathophysiology of common heritable diseases.
Cystic fibrosis is a common autosomal recessive disorder mostly affecting lungs, but can as well progressively damage pancreas, liver, kidneys and intestine. When both the parents are silent carriers of this gene, it is passed on to the children with 1 in 4th chance of disease expression.
The condition is associated with genetic defect in a protein expression; regulating the inorganic movement of salts in and out of the cells. This causes secretion of thick and sticky mucus in systems, such as digestive system, respiratory system; leading to infections and difficulty in food absorption as well as breathing. Major risk factors that are being linked with the disease expression are genetic mutations and racial specificity like northern European Ancestry.
It is the most severe form of inherited disorder with progressive enzymatic deficiency; leading to nerve cell damage. The gene is being expressed in every individual; preventing the production of fatty substance known as ganglioside.
However, the disease expression is linked up with enzyme deficiency due to genetic mutation; leading to increased deposition of ganglioside on the neural axons; known to be Tay-Sachs. The symptomatic expression can be started by the age of 3-6 months, with muscle weakness, low muscle tone, etc. The disease has racial inclination towards Jewish Descent, French Canadians, Cajuns from Louisiana, and people with Irish Ancestry.
Severe Combined Immunodeficiency Disorder (SCID)
A life threatening disease, causing recurrent infections, skin problems, and digestion problems, associated with low level of immunity. It is known to be a common prototype of primary immunodeficiency disorder; linked with various molecular defects, leading to severe restriction in numbers and functions of major immune cells like T cells, B cells and NK cells. If ignored, SCID can give rise to severe infection in children up to the age of 2 years,causing death.
The incidence of SCID is reported to be almost 1 in 75,000 childbirths. The deficiency is observed to be more common in Navajo and Apache Native Americans.
Once again a genetic mutation; characterized by typical malformations of the head and facial area, along with abnormalities associated with feet. Although, the range and the severity of symptoms may be patient specific, some of the primary findings can be noted as premature closing of fibrous joints, flat mid facial region and abnormally broad toes.The disorder was originally reported in 1976, by Amish Family.
Additionally, some of the other common disorders that can be inherited are bleeding disorders, neurological indications, metabolic disorders, etc.
Preventing hereditary mutations
It is always advisable to undergo prenatal genetic screening to be sure of any hereditary abnormality. If a test exhibits a high risk of passing on the mutation to next generation; the couple can consider one of the options, such as artificial sperm donation, if paternal genes are faulty or use of an egg from another woman, if maternal genes are defective.
With the advancements in medical science; scientists have also proposed the idea of artificial twinning as a potential solution to reduce epigenetic impact on humans. Artificial twinning is scientific modernization, wherein the normal embryos for which the preimplantation genetic screening, reports no known mutations are manually split and cryostored under liquid nitrogen for future applications.
The success of artificial twinning is highly acknowledged in cattle industry; wherein a cow with desirable traits is treated with hormonal therapy, to generate many eggs at a time; which are then artificially inserted in their surrogate carriers.
Thus, in conclusion; considering the growing evidences of genetic inheritance and epigenetic malformations, the big concern for prospective parents would definitely be whether their baby will be healthy and free from any genetic abnormalities.
For that matter, couples who are planning for their child should seek expert medical advice about the risk of genetic errors; through prenatal counseling. On the basis of family history and medical evaluations, your healthcare practitioner can prescribe you, with a possible solution.
Heritable diseases, occurring as a result of sudden epigenetic changes, have their roots in the family history. A family, carrying genes responsible for diseases, may thus be at an increased risk of developing them if prompted by some external parameters.