{Reference Type}: Case Reports
{Title}: Systemic sclerosis in a patient with muscle dystrophy.
{Author}: Moutinho-Pereira S;Morais-de-Sá E;Greenfield H;Pereira PR;
{Journal}: BMJ Case Rep
{Volume}: 15
{Issue}: 9
{Year}: Sep 2022 13
暂无{DOI}: 10.1136/bcr-2022-250389
{Abstract}: Systemic sclerosis is an autoimmune disease that can result in lung fibrosis, and is strongly associated with the presence of serum anti-topoisomerase-I autoantibodies. A young man with genetic muscular dystrophy caused by titin-cap/telethonin (TCAP) gene mutation, developed a severe restrictive lung disease due to a fibrosing interstitial pneumonia secondary to systemic sclerosis with positive anti-topoisomerase-I antibodies. Using amino acid sequence alignment and protein structure modelling, we found that mutant telethonin exposes an amino acid sequence with significant homology to an immunodominant site of topoisomerase-I. Abnormal telethonin results in a loss of integrity of the sarcomere structure, which might result in rhabdomyolysis and abnormal protein exposure to the immune system. Our preliminary analysis suggests a possible role for mutant sarcomere protein telethonin as an immunogenic target recognised by anti-topoisomerase-I antibodies, which could explain the development of systemic sclerosis in this particular patient.