Saturday, May 23, 2009

Interesting Chromosome 17 Coincidence-

Previously, I had mentioned that the genetic version of PTS was thought to be caused by a gene defect on Chromosome 17. There are only 200 families known to have this particular defect. This is known as Hereditary Neuralgic Amyotrophy, or Hereditary Parsonage Turner Syndrome on some sites, although I suppose more now seem to recognize the name HNA when dealing with the hereditary type. One thing that my Neurologist pointed out, which I had realized before, is that I have Vitiligo. Looking at this, which I had never thought to do before, I found that it is linked to the same Chromosome 17.

From Wikipedia on Vitiligo (http://en.wikipedia.org/wiki/Vitiligo)

“Vitiligo is associated with autoimmune and inflammatory diseases, commonly thyroid overexpression and underexpression. JA study comparing 656 people with and without vitiligo in 114 families found several mutations (single-nucleotide polymorphisms) in the NALP1 gene.The NALP1 gene, which is on chromosome 17 located at 17p13, is on a cascade that regulates inflammation and cell death, including myeloid and lymphoid cells, which are white cells that are part of the immune response. NALP1 is expressed at high levels in T cells and Langerhan cells, white blood cells that are involved in skin autoimmunity.”

From Wikipedia on HNA (http://en.wikipedia.org/wiki/Hereditary_Neuralgic_Amyotrophy)

“Hereditary Neuralgic Amyotropy, alternatively referred to as HNA, is a neuralgic disorder that is characterized by nerve damage and muscle atrophy, preceded by severe pain. It is caused by a mutation to the gene locus 17-q25 of the septin 9 gene. While not much is known about this disorder, it has been characterized to be similar to Parsonage-Turner syndrome in prognosis.[1]”

I am not sure I understand the implication, if any. But, I understand why my Neurologist was interested in my Vitiligo.

2 comments:

  1. I have PTS and Vitligo is in my family. Coincidence? All women in my family have an overactive Thyroid as well.

    ReplyDelete
  2. Yep- I am begging to see a pattern too. I wish I were doctor at times. It would be interesting to research something like this.

    ReplyDelete