Inherited Genetic Disorders

My sister who is a teacher was telling me a story about a little boy in her class with a particular disorder, the boy's mother confided in her that her husband who is the father of the child was said to have the same disorder as a child.

In a religious setting, we refer to it as a spiritual case, if you come down to Africa, we believe it is a situation of family curse. However, science has a different opinion, as they believe it is a case of a genetic disorder, it is something hereditary that has to do with the gene.

Image credit

A genetic disorder happens as a result of a mutation in DNA, and there are different forms of genetic disorders. Genetic disorders happen as a result of changes made to mutations in DNA within the body cells.

Before we begin to talk about these disorders and their causes, I would love to briefly explain genes and DNA, this way, there is a better understanding of the topic in question as we will be using the terms a lot.

DNA is a house for the instructions that make the body function. DNA is made up of two strands that wind around each other. Each strand of DNA is made up of, chemicals called nitrogen bases- Thymine, Adenine, cytosine, and guanine. TACG are the strands that make up the DNA code.

Genes, on the other hand, are a specific section of the DNA, which contains instructions for the production of proteins. Most parts of the body are made up of proteins and they help the body work appropriately.

The reason why some diseases happen is as a result of genetic change in one of their genes, this process is sometimes called mutation. Such diseases are known as single-gene disorders.
What happens in such a case is that one of the DNA bases has been changed, which can automatically change the way the gene functions. A good example is when a gene that usually has a sequence TAC is changed to TTC.

Change in genes can be passed down from parent to child/children as the case may be, when this happens, it is a case of inherited disorder. Sometimes, the genetic change can happen during the process of making sperm or egg in their early developmental stage, this way, the child will have genetic changes but the parents will not have such.

Disorders affecting the sex chromosome are called the X-linked disorders, the ones that are single gene disorders and affect a gene on one of the 22 autosomal chromosome pairs are called autosomal disorders.

Image credit

Furthermore, disorders can also be classified based on whether the affected gene is recessive or dominant. In the case of some diseases, anyone who inherits the genetic change will have the disease condition, but its seriousness varies among individuals.

On the other hand, the people who have the genetic change will most likely develop the disease or condition while others will never develop it.

I will be writing about as many genetic disorders as I can in this article and possibly continue them in my next post if this becomes too lengthy, but if not, we cover them all here. So, ride with me, sweet people.

Attention deficit hyperactivity disorder(ADHD) is a neurological disorder that affects the ability of the child to control their behavior and pay attention to tasks.

ADHD is inherited, but can also be caused as a result of a brain injury that happened before, during, or after birth. Learning disability, and behavioral disorders are other signs that accompany ADHD.

Image credit

Achondroplasia is caused by a mutation in the FGFR3 gene. Everyone who has a single copy of the normal FGFR3 gene mutation has achondroplasia. This disorder affects the growth of bones, it is the most common form of diss appropriate short individuals.

Most of the people with this genetic disorder have parents who are of average size.

Antitrypsin Disorder (AATD) is an inherited genetic disorder that causes low levels of AAT in the blood. AAT is a protein made in the liver, the liver releases the protein into the bloodstream, which protects the lungs and helps them function appropriately.

Insufficient AAT in the bloodstream will damage the lungs, therefore making it difficult for the affected person to breathe. Affected people either have one damaged copy of AATD or the two copies are damaged. In adults, it presents itself as liver disease while it presents itself as lung disease in the small portion of children affected.

Autism is so common that most people just refer to all disorders as autism, more specifically, it is called autism spectrum disorders (ASDs). It encompasses a broad group of developmental disorders, displayed by problems with verbal or nonverbal communication, and severely limited activities and interests.

Scientists are unsure of what causes autism yet, but it is believed strongly that both genetic and environmental factors play a strong role here.

In order not to bore you with an extremely long write-up, I'll pause here for today and we will continue from here next time. I'll see you soon sweet people, bye for now.

For Further Studies

https://www.cdc.gov/genomics-and-health/about/genetic-disorders.html

https://www.genome.gov/Genetic-Disorders/Autism

https://www.genome.gov/Genetic-Disorders/Achondroplasia

https://www.genome.gov/Genetic-Disorders/Alpha-1-Antitrypsin-Deficiency

https://pmc.ncbi.nlm.nih.gov/articles/PMC9704033/

https://my.clevelandclinic.org/health/diseases/21751-genetic-disorders

---

---

Hi, I am Tobi, a writer, speaker, relationship blogger, and lover of good music. I love making friends and learning from people.