DNA, also known as deoxyribonucleic acid, is a vital part of your genetic code. DNA is made from RNA (ribonucleic acid). Certain proteins convert your RNA to DNA. Fortunately, there exist checks and balances as certain repair enzymes fix any defective DNA prior to the DNA being translated into protein, collagen or any other substances necessary to maintain your body. Sometimes, these repair enzymes become defective, and medical conditions such as xeroderma pigmentosa, Cockayne syndrome and ataxia telangiectasia can develop.
Xeroderma Pigmentosa
MedlinePlus indicates that xeroderma pigmentosa is a rare condition in which your skin and eye tissues becomes extremely sensitive to light. Physical manifestations of xeroderma pigmentosa include sunburns and skin-blistering even with mild sun exposure, crusting of your skin, skin patches, scaling of your skin and photophobia, a condition in which you cannot tolerate bright light.
Your doctor can diagnose this condition via an eye exam. According to MedlinePlus, an eye exam will reveal tumors on your eyelids, clouding of the surface layer over the colored part of your eye (cornea) and certain eye inflammations.
Treatment for xeroderma pigmentosum includes avoiding all forms of bright lights, including fluorescent light and the light that streams into your windows. Also, you must use sunblock and long-sleeved clothing to protect your skin from sun exposure.
Cockayne Syndrome
According to the National Library of Medicine, Cockayne syndrome is an inherited disease that typically affects children. Like xeroderma pigmentosa, these children are also very sensitive to ultraviolet light. However, they also are short in stature and age faster than usual. Two types of Cockayne syndrome exists. Type I is a disease that becomes more pronounced after 1 years of age. Type 2 is obvious at birth.
Cockayne Syndrome is due to the lack of a DNA repair system called transcription-coupled repair. As your genes are being translated into protein, certain enzymes repair any defects in your gene. In Cockayne's syndrome, these repair enzymes malfunction. The National Library of Medicine indicates that research is still ongoing and a specific drug therapy has not yet been developed.
Ataxia Telangiectasia
Ataxia telangiectasia is another disease that involves malfunctioning DNA repair systems. According to the National Institute of Neurological Disorders and Strokes (NINDS), this disease is also a childhood disease in which your child is sensitive to certain light waves such as x-rays and gamma-rays. Ataxia telangiectasia is also characterized by balance problems, slurred speech and red spider-like veins (telangiectasias). Unfortunately, according to NINDS there is no way to stop the progression of ataxia telangiectasia. However, physical therapy, speech therapy, vitamins and gamma-globulins may help manage its symptoms.
