Eustachian Tube Growth and Development: Anatomy/Function. Protocol Description. This study measures Eustachian tube function and facial growth over time in three groups of children: one with recurrent ear infections, one with chronic middle ear fluid, and one with little past history of otitis media.
Causes of Kartagener syndrome. Kartagener syndrome is caused by a mutation in the DNAI1 gene, which makes a cellular protein required for normal functioning cilia (cilia line the respiratory tract) and sperm motility.
The gene responsible for HGPS is called LMNA (pronounced âlamin-aâ). One tiny spelling mistake in the DNA sequenceof LMNA is responsible for Progeria. This type of gene change is called apoint mutation. The LMNA gene normally makes a protein called lamin A,which is an important protein for most cells of our bodies. Lamin A is foundin the cell nucleus (the part of each cell that contains the DNA) and helpsmaintain the shape and function of the cell. In Progeria, the LMNA mutation causes the gene to produce an abnormalLamin A protein called progerin. In children with Progeria, many cells in thebody â such as the blood vessels, skin, and bones â make progerin protein.As the children age, progerin builds up in these cells causing progressivedisease.