Abstract
BackgroundCongenital Central Hypoventilation Syndrome (CCHS) is characterized by severe apnea during sleep and dysfunctional chemosensitivity while awake. These patients exhibit a mutation in the 4p13 gene which codes for the Phox2b transcription factor. It has been established that the chemosensitive Retrotrapezoid Nucleus (RTN) is defined by Phox2b positive neurons on the ventral surface of the medulla which underlies the ventilator deficits for this syndrome. However, some patients also exhibit gastrointestinal and auditory complications, which are not related to the RTN. These neurons have yet to be defined in other areas of the brainstem for their specific functionality such as in the Nucleus of the Solitary Tract (NTS) and Dorsal nucleus of the vagus nerve (DMV). Discovering the functions of Phox2b+ neurons in other nuclei will help explain the other complications that can be expressed by the 4p13 gene mutation other than hypoventilation.MethodTo begin this process we defined whether there are Phox2b+ neurons in the NTS and DMV of goat subjects as well as the ratio of Phox2b+ neurons to total number of neurons in the NTS both caudal and rostral to obex. This was done through counting neurons in both a nissl and a Phox2b stain under a standard microscope.ResultThus far, we have found a significant number of Phox2b+ neurons from −1 to 3 mm in NTS and DMV. However, there is a lower ratio of Phox2b+ to total neurons within 1 millimeter both caudal and rostral from obex in the NTS, and from obex to 2 millimeters rostral in the DMV. The caudal portion of NTS has been known to be a site of central chemosensitivity, while the DMV is known to have gastrointestinal and respiratory functions.ConclusionNow that we have characterized the expression of Phox2b in the NTS and DMV, future studies will be aimed at determining their contribution to physiologic functions characterized in the NTS.Support or Funding InformationSupport: NIH HL25739 & Veterans Administration
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