What you need to know about Hereditary Diseases

Overview

A hereditary disease is any condition caused by abnormality in a person’s genetic makeup/ genome. It can range from major to minor abnormality- from a gross abnormality involving subtraction/ addition of a whole chromosome/ set of chromosomes to a distinct mutation in one base of a particular gene’s DNA.

Some hereditary diseases are passed on from parents, whereas others result from acquired mutations/ changes in preexisting group of genes or one preexisting gene.

In most cases, mutations are caused by environmental exposure. In other cases, however, they occur randomly.

Types of inheritance

Hereditary diseases are usually caused by one of the following types of inheritance:

1. Single gene inheritance

2. Mitochondrial inheritance

3. Multi-factorial inheritance

4. Chromosome abnormalities

Single Gene Inheritance

Also referred to as monogenetic/ Mendelian inheritance, single gene inheritance occurs as a result of mutations/ changes in a single gene’s DNA sequence. There are over 6,000 single-gene hereditary diseases, and most of them occur in approximately 1/ 200 births.

Examples of disorders caused by this type of inheritance are; cystic fibrosis, hemochromatosis, sickle-cell anemia, Huntington’s diseases as well as Marfan syndrome.

Mitochondrial inheritance

This is a type of hereditary disorder caused by changes/ mutations in mitochondria’s non nuclear DNA. Mitochondria are minute round organelles found in cytoplasm of cells of both plants and animals. They play an important role in cell respiration.

Examples of hereditary diseases caused by mitochondrial inheritance include; Leber’s optic atrophy, MELAS dementia and myoclonic epilepsy.

Multi-factorial inheritance

These are disorders caused by an amalgamation of mutations in manifold genes and environmental factors. For instance, genes that usually cause breast cancer vulnerability have been discovered on chromosomes six, eleven, thirteen, fourteen, fifteen, seventeen and twenty-two.

Examples of multi-factorial hereditary diseases include; heart disease, obesity, hypertension, cancer, Alzheimer’s disease, diabetes as well as arthritis, among others.

This type of inheritance is similarly associated with genetic traits like fingerprint patterns, skin complexion, height and color of the yes.

Chromosome abnormalities

Chromosomes are distinct structures that consist of protein and DNA, and are found in cell nuclei. Given that they’re primarily responsible\le for carrying genetic material, abnormal structure and/or number of chromosomes can cause hereditary diseases. The major cause of abnormalities is complications during the processes of cell division.

Chromosome abnormalities can cause diseases like Down syndrome, Cri-du-chat syndrome, Turner syndrome and Klinefelter syndrome as well.

Beckwidth-Wiedemann Syndrome and Healthy Lifestyle

Beckwidth-Wiedemann Syndrome is a disease that affects most parts of the body. It is mostly present in babies during birth. Unlike their peers, people with this condition tend to be taller or bigger in size. At the age of 8 the growth slows down and most grown up people are not abnormally tall. Beckwidth-Wiedemann Syndrome may affect some parts of the body and sometimes it affects one side of the body causing uneven growth of the body.

The teeth of the BWS patients need some attention too. Search for the best Sydney dental implants available on the market today.

Characteristics of the Beckwidth-Wiedemann Syndrome

The sign and symptoms of the condition vary in different people.
At birth, some children are born with an opening at the side of their abdomen mostly at the belly button that has the internal organs protruding.
Presence of a soft pouch around the belly button is also seen in some infants.
The average length of the infant and weight is usually abnormal. Low blood sugar levels may also be witnessed at birth.
Infants with this condition are sometimes born with an abnormally large tongue. The tongue mostly interferes with air passage and speaking.
The risk of children with the condition suffering from cancerous tumors is very high. About 10% of the people with Wiedemann syndrome get the cancerous tumors mostly during their childhood.
The condition does not imply that people with it have medical conditions, children and adults with wiedemann syndrome have a normal life expectancy.

Management of the Beckwidth-Wiedemann Syndrome

The abdominal wall defects present in most of the infants can be fixed through surgery to prevent any form of infections. The umbilical hernias does not need any treatment, by the age of four they close spontaneously. The low blood sugar levels in children can lead to brain damaged if they are left untreated. The treatment used should be in accordance to the neonatal hypoglycemia protocol. The sugar levels can be raised by feeding the infant glucose. The large tongue can hinder the mouth from fully closing. However, the tongue becomes less noticeable overtime and therefore treatment is not necessary. Surgery can be performed in serious cases where the tongue hinders air passage.

In summary, the chances of infants being born with the BWS increases four fold in children conceived using in vitro fertilization. This is because of the genes being turned on and off during the procedures. The cases of an infant being born with BWS is one in 13600. BWS has been recorded to have some ethnic groups and is equally present in males and females.

From Shellfish Dinners to Blood Thinners: How Sharks Help Shape Our World

Sharks have terrified beachgoers ever since Jaws took a bite out of cinema history more than forty years ago. Despite the fact shark attack incidents are dropping worldwide, many still dread a deadly encounter with one of these denizens of the deep. Sharks may be far more beneficial to humans than ever imagined, however. Here are three ways sharks make an important impact in our world.

A Healthier Sea

As the ocean’s apex predator, sharks play a vital role in the underwater ecosystem. Maintaining consistent populations of aquatic plant and animal life ensures a robust environment in which species of all shapes and sizes can thrive. As scavengers, sharks devour dead and decaying matter which helps clean the water. Marine biologists and oceanographers often study these fantastic fish to help gauge the wellbeing of our oceans.

A Healthier You

Scientists have been studying the possible health benefits of sharks for years. Squalamine, a chemical compound found in the stomach of dogfish sharks, has been examined for its potential in treating macular degeneration and cancer. Anti-clotting agents in shark blood are being researched in hopes they could one day be a human blood thinner and help remedy heart disease. Some people investigate shark cartilage nzfor its use in alleviating arthritis, enteritis, psoriasis and other conditions.

A Healthier Economy

Sharks are good for businesses beyond television and film companies. The shellfish aquaculture industry, as well as our appetites, owe a debt to sharks. These mighty ocean predators prey on lesser hunters such as rays and octopi which, if left unchecked, would significantly reduce the world’s population of lobster, crab and other shellfish and limit our opportunity to sample the savory seafood. Additionally, escalating public interest in sharks has created a booming ecotourism industry. Millions of dollars are generated every year through thriving shark tourism destinations from the Caribbean to the South Pacific.

Sharks are perhaps the most maligned and misunderstood creatures in the marine world. Before drowning in fear the next time you visit the beach, consider the many ways in which sharks make for a healthier world.