Ageing and Disease: Is it in Our Genes?

We test for several diseases including:

• Macular Degeneration
• Alzheimer’s Disease
• Osteoarthritis
• Rheumatoid Arthritis

Macular Degeneration

Macular degeneration also known as Age- Related Macular Degeneration (AMD) is a disease that is caused by damage to the retina. This disease specifically affects the ‘macula’, which is the central most detailed area of the visual field.

There are two types of macular degeneration

Dry/Non-exudative degeneration can cause detachment of the retina through wastage of important retinal pigment. This leads to visual loss, which tends to be gradual as light sensing cells are progressively lost.

Wet/Exudative degeneration is a more severe form of AMD causing retinal detachment due to abnormal blood vessel growth leading to leakage of blood and protein affecting the light sensing cells. This form of AMD occurs suddenly and loss of vision is rapid with a sudden onset.

The role of genetics

Genetics is a strong causative factor of AMD. Subsequently genetic testing can adequately provide a risk susceptibility profile for individuals. Two genes have shown to be strongly associated with the disease: ARMS2 and TIMP3 that are a strong risk factor and an indicator of disease progress respectively. Simple genetic tests can provide risk profiles as well as indicators of how far the disease has progressed to allow treatment and prevention.

Such genetic tests allow individuals to make suitable dietary and lifestyle changes to mitigate AMD.

Read more about macular degeneration.

Alzheimer’s Disease

Alzheimer’s disease is the most common cause of dementia, typically affecting around 36 million people worldwide.

Dementia refers to a group of symptoms including:

• Memory loss (forgetting faces, names and events)
• Confusion
• Mood changes
• Issues with communication and reasoning

These symptoms may lead to an array of difficulties that causes disturbances in carrying out every day activities leaving the person feeling withdrawn and isolated.  As the disease progresses, people suffering with the disease will require care, support and aid on a daily basis.

It is thought that a combination of factors are responsible for the cause of Alzheimer’s disease: age, genetics, environment, and overall health and lifestyle.

The role of genetics

A growing number of genes have been identified which may bring about Alzheimer’s disease. In dementia, multi Gene (both simple and complex) patterns of inheritance are seen.

However the gene that is most influential in the risk of developing Alzheimer’s, particularly the late onset type is found on chromosome 19 called apolipoprotein E (APOE). There are three forms of this gene: APOE ε2, APOE ε3 and APOE ε4. Each form is associated with a higher risk of developing the disease, with particular reference to APOE ε4, a gene mutation.

In general, persons who have a close relative who suffers with late onset Alzheimer’s disease are at risk, almost double of developing the disease over that of someone who does not have Alzheimer’s disease in the family. This is not to say that every person who has a family suffering with the disease will contract it, however there needs to be awareness of the importance of following a healthy lifestyle.

Why not read more information about the symptoms and genetics of Alzheimer’s?

Osteoarthritis

Osteoarthritis is the most common form of arthritis; a condition that affects the joints.

With age everyone suffers with some degree of wear and tear of the joints however with osteoarthritis the protective cartilage surrounding joints experiences degradation, a loss of cartilage for which there is no known reversal.

It can affect any part of the body but it most commonly affects the joints of the hands, neck, lower back, knees and hips. The person may experience symptoms such as joint pain, stiffness, tenderness, locking of the joints and effusion.  This results in decreased movement of the area, atrophy of surrounding muscles and loosening of the ligaments.

The role of genetics

Persons with close family relatives who suffer with the condition are more likely to develop osteoarthritis. There are 8 genes that are associated with the development of the condition, located on the GNL3 gene and different HLA class I, II.

Osteoarthritis is a considered a complex disorder which may be caused by a combinations of factors namely genetic and environmental such as obesity, repetitive use of joints, past trauma and lack of exercise.

Preventative measures may be taken to decrease the likelihood of developing the condition, keeping healthy and avoiding stress are some of them. The other is linked to genetics, in which case genetics testing may be used to determine the correct strategies for prevention and treatment.