DOCK7
Dedicator of Cytokinesis 7 (Dock7) is a protein encoded by the DOCK7 gene which is important in the formation and maintenance of neurons1. It plays a key role in neurogenesis (neuron development) by promoting the differentiation and transition of glial cells to neurons. It also allows for vital, rapid communication between cells2.
Interestingly, DOCK7 also plays a role in modulating blood lipid concentrations and research has found that SNPs in this gene may increase the risk of atherosclerosis and other cardiovascular diseases.
Impact of DOCK7 mutations
Several gene variants found in the DOCK7 gene have been found and linked to the development of hyperlipidaemia (increased blood lipid levels)3. These variants have been shown to associate with coronary artery disease and ischaemic stroke.
Surprisingly, variations in the DOCK7 gene do not present any neurological, and therefore behavioural abnormailities. However, two rare heterozygous variants, which had not been discovered previously were found to cause epileptic encephalopathy and cortical blindness4.
| rsID Number | Major Allele | Minor Allele | Minor Allele Frequency (%) |
|---|---|---|---|
| rs10889353 | t | g | 33 |
Risk Description
The risk ‘G’ allele of T40844G has been associated with alterations in the blood cholesterol and lipid profile of individuals 5. Given its vital role for neuronal development it is not clear how this SNP can alter lipid profiles. One hypothesis is that lipids which are usually required to maintain the protective coating of neuronal cells are instead released into the blood.
Additionally, although lipid profiles are altered no health impacts have been associated with this SNP.
Discuss this information with your doctor before taking any course of action.