Alpha-1 antitrypsin deficiency is a genetic lung disease affecting about one in 2,500 Americans. Alpha 1-antitrypsin is a protein that is made in the liver
and protects normal lung tissue from proteases that attack foreign and unhealthly material. Without enough alpha-1 antitrypsin, liver disease, such as cirrhossis, or lung damage can occur. This disease is due to mutations in the protease inhibitor gene on chromosome 14q32; it is inherited in an autosomal recessive fashion.
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Alpha-1 antitrypsin deficiency is a genetic lung disease affecting about one in 2,500 Americans. Alpha 1-antitrypsin is a protein that is made in the liver
and protects normal lung tissue from proteases that attack foreign and unhealthly material. Without enough alpha-1 antitrypsin, liver disease, such as cirrhossis, or lung damage can occur. This disease is due to mutations in the protease inhibitor gene on chromosome 14q32; it is inherited in an autosomal recessive fashion.
X-linked Ichthyosis, also called steroid sulfatase deficiency, is a genetic skin disorder that affects males. Boys with this disorder have dark,hard, scaly skin. "Ichthy" comes frome the Greek work for fish. As the name suggests, it is inherited in an X-linked recessive manner. 85% of affected patients have deletion in the gene on chromosome Xp22.32.
Alport syndrome, affecting about one in 5,000 persons, is a hereditary kidney disease believed to be caused by mutations in collagen genes. Usually inherited in an X-linked pattern, males are most often affected. The chronic kidney disease often leads to end-stage renal disease treatable only by dialysis or by kidney transplantation. In various families, the kidney problem can be associated with deafness, eye disorders, abnormality of skin, and disorders of blood.