Werner syndrome is a rare autosomal recessive disease causing premature aging, often classified as a progeroid syndrome. It is caused by an inherited mutation in the RECQL2 gene and is more prevalent in the Asian population. Patients tend to age rapidly after puberty, resulting in shorter stature and various age-related diseases. There is no cure, but genetic testing and counseling can help manage the condition.
Werner syndrome is an autosomal recessive disease characterized by premature aging. Progeria refers to a group of premature aging diseases, such as Werner’s syndrome. Werner syndrome is also sometimes classified as progeroid syndrome and is caused by an inherited mutation in a gene that affects the eighth chromosome. Werner’s syndrome is a very rare condition that has only been reported in a small percentage of the world’s population.
Werner syndrome is named after Otto Werner, a German scientist who originally described the syndrome in his 1904 doctoral thesis. In 1997, the gene responsible for Werner syndrome was identified as RECQL2. Research has indicated that the syndrome is more prevalent in the Asian portion of the population, as a higher proportion of reported cases have originated from Japan than any other country.
Individuals with Werner syndrome typically develop at a normal rate until they reach puberty. After the onset of puberty, they tend to age rapidly and development, including the growth spurts experienced by normally developing adolescents, is absent. This typically results in shorter than normal stature in those with Werner’s syndrome. Other symptoms commonly seen in individuals with Werner syndrome include premature hair loss and graying, premature thickening of the skin, and cataracts in both eyes.
Patients with Werner’s syndrome also tend to experience diseases and disorders that are typically associated with aging, including various types of cancer, atherosclerosis and heart disease, and sometimes diabetes mellitus. Werner patients can live into their forties or into their fifties, but they generally suffer from illnesses that lead to earlier than normal deaths.
While there is no cure for Werner syndrome, patients suspected of having the condition are tested for the mutated gene for proper management of health conditions that typically affect patients. Werner syndrome is extremely rare and typically not a problem, but those who suspect they carry the recessive gene can participate in genetic counseling before breeding.
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