Atrial dysrhythmia and chronic digestive (intestinal and atrial dysrhythmia Chronic) - Gen SGOL1.
Atrial dysrhythmia and chronic gastrointestinal (CAID) is a disease that affects the heart and digestive system. The disease upsets the normal rhythm of the heartbeat, leading to an abnormal heart rhythm called sick sinus syndrome, and affects the rhythmic muscle contractions that propel food through the intestine (peristalsis), leading to a condition called intestinal pseudo - obstruction. Heart and digestive problems develop at the same time, usually 20 years old.
The sick sinus syndrome (also known as sinus node dysfunction) is an anomaly SA node. The SA node electrical pulses beginning each heartbeat. In people with sick sinus syndrome, the SA node does not function normally, which usually cause bradycardia, tachycardia or bradycardia-tachycardia syndrome. Symptoms related to abnormal heartbeats may include dizziness, lightheadedness, syncope, palpitations and confusion or memory problems. During the year, many affected people have chest pain, shortness of breath or fatigue.
Meanwhile, the intestinal pseudo - obstruction leads to an accumulation of partially digested food in the gut. This buildup can cause bloating and pain, nausea, vomiting, constipation or diarrhea. Affected individuals have loss of appetite and impaired ability to absorb nutrients, which can lead to malnutrition. These symptoms resemble those of a bowel obstruction, but no blockage intestinal pseudo - obstruction does not occur.
Chronic atrial dysrhythmia and digestive (CAID) is due to changes in the SGOL1 gene, located on the short arm of chromosome 3 (3p24.3). This gene encodes part of a complex called cohesin protein. This protein complex helps control the placement of chromosomes during cell division. Before cells divide, chromosomes must be copied all. The DNA copy of each chromosome is arranged on two identical structures, sister chromatids, which are joined to each other along the early stages of cell division. In this process, cohesin remains sister chromatids together and in so doing helps to maintain the stability of the chromosome structure during cell division.
At least one gene mutation has been identified SGOL1 in atrial dysrhythmia and chronic gastrointestinal (CAID). The associated mutation replaces the amino acid lysine with glutamic acid amino acid at position 23 of the protein (or Lys23Glu K23E). It is likely that this change may result in a complex that cohesin is less able to hold sister chromatids together, leading to a decrease of chromosomal stability during cell division. It is believed that this instability causes senescence of cells in the intestinal muscle and sinus node, leading to problems maintaining proper rhythmic movements of the heart and intestines, leading to the signs and symptoms of CAID. Although it is unclear why genetic mutations SGOL1 specifically affect the heart and intestines in caid, it is likely that expression of SGOL1 gene at certain embryonic tissue or a particular function of the SGOL1 protein in the sinoatrial and cells that help control the rhythm of bowel movements, can respond to the characteristics of the disease.
This disease is inherited in an autosomal recessive pattern, that is, both copies of the gene in every cell must have mutations for alteration is expressed. The parents of an individual with an autosomal recessive disease have a copy of the mutated gene, but usually show no signs and symptoms of the disease.
Tests in IVAMI: in IVAMI perform detection of mutations associated with atrial dysrhythmia and chronic gastrointestinal (CAID), by complete PCR amplification of exons SGOL1 gene, and subsequent sequencing.
Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).