Hereditary diseases are genetic disorders that are transmitted from parents to children through genes. These conditions can have a genetic origin in one or both parents and can manifest in different ways in the offspring. Understanding what hereditary diseases are, the existing types, their characteristics and some examples clarifies the importance of genetics in people's health and well-being.
Types of hereditary diseases
Hereditary diseases can be classified into different categories depending on their inheritance pattern, the location of the genes involved and their way of manifestation in the body. Below are some of the main types of hereditary diseases:
Monogenic diseases
This type of disease is caused by a mutation in a single gene and usually follows a pattern of inheritance. Mendelian (dominant or recessive). Examples of monogenic diseases are cystic fibrosis, Duchenne muscular dystrophy and hemophilia.
Polygenic diseases
Polygenic diseases are those in which several genes and environmental factors intervene. The risk of developing these types of diseases may increase with the presence of certain genetic variants. Examples of polygenic diseases are type 2 diabetes, obesity and Alzheimer's disease.
Chromosomal disorders
These diseases are caused by alterations in the structure or number of chromosomes. Some examples of chromosomal disorders are Down syndrome (trisomy of chromosome 21), Turner syndrome (monosomy of the X chromosome), and Klinefelter syndrome (XXY sex chromosomes in men).
Characteristics of the hereditary diseases
Hereditary diseases can have a variety of characteristics that distinguish them from other disorders. Some of the main characteristics of these genetic conditions are:
Inheritance pattern
Hereditary diseases can be transmitted in different ways, such as autosomal dominant inheritance, autosomal recessive inheritance, chromosome-linked inheritance X, among others. The pattern of inheritance determines the likelihood that an individual will inherit the disease from his or her parents.
Age of onset and progression
The age of onset of symptoms and progression of the disease They may vary depending on the type of hereditary disease. Some diseases manifest themselves from an early age, while others can develop later in life.
Symptoms and clinical manifestations
The symptoms of hereditary diseases can be very diverse and affect different body systems. Some inherited conditions have specific symptoms, such as breathing problems in cystic fibrosis or muscle weakness in muscular dystrophy.
Diagnosis and treatment
Diagnosis of inherited diseases often involves genetic testing for identify the mutations responsible for the disease. Once the diagnosis is established, treatment may vary depending on the disease and may include specific therapies, symptom management, and ongoing medical follow-up.
Examples of hereditary diseases
There are numerous hereditary diseases that They affect people around the world. Below are some representative examples of hereditary diseases and their characteristics:
Cystic fibrosis
Cystic fibrosis is an inherited disease caused by a mutation in the CFTR gene, which encodes a chloride channel in cells. This condition primarily affects the lungs, pancreas, and digestive system, causing the buildup of thick mucus and respiratory, digestive, and nutritional difficulties. Cystic fibrosis is inherited in an autosomal recessive manner and is usually diagnosed in childhood.
Duchenne muscular dystrophy
Duchenne muscular dystrophy is a genetic disorder caused by mutations in the DMD gene, which encodes the protein dystrophin. This disease primarily affects skeletal muscles and is characterized by progressive muscle weakness, difficulty walking, and heart problems. Duchenne muscular dystrophy is inherited in an X-linked manner and mainly affects males.
Down syndrome
Down syndrome is a chromosomal disorder caused by the presence of an extra copy of chromosome 21. People with Down syndrome have distinctive physical characteristics, delayed intellectual development, and an increased risk of health problems, such as heart disease and endocrine disorders. Down syndrome is related to maternal age and affects people of all races and ethnic groups.
Alzheimer's Disease
Alzheimer's disease is a neurodegenerative disease that affects the memory, thought and behavior. Although the exact cause of the disease is not completely understood, it is known that genetic factors play an important role in its development. Some forms of Alzheimer's disease can be inherited, especially when linked to mutations in specific genes, such as APP, PSEN1 and PSEN2.
Conclusions
Inherited diseases represent a diverse set of genetic disorders that affect millions of people around the world. Understanding what hereditary diseases are, the existing types, their characteristics and some examples helps raise awareness about the importance of genetics in people's health and well-being. Early diagnosis, appropriate treatment and genetic counseling are essential to address these conditions and improve the quality of life of those who suffer from them.