HOMO SAPIENS PRKN

Diseases associated with PRKN include Parkinson Disease 2, Autosomal Recessive Juvenile and Leprosy 2. The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Reference

Homo Sapiens APP/PSEN1/PSEN2

With the coming of an aging society, the number of Alzheimer’s disease (AD) is increasing rapidly. To date, only three causative genes have been identified in the pathogenesis of AD, including amyloid precursor protein (APP), presenilin1 (PSEN1), and presenilin2 (PSEN2). APP encodes a protein called amyloid-β protein precursor, whose proteolysis generates amyloid-β(Aβ), a key component of amyloid plaque. Additionally, presenilin-1 and presenilin-2 are encoded by PSEN1 and PSEN2, respectively. Both of them are subunits of γ-secretase and associated with either the increase of Aβ or the raised ratio of Aβ42 over Aβ40, causing the formation of amyloid plaques and leading to the development of AD. Reference

Homo Sapiens BRCA1/BRCA2

BRCA1 (BReast CAncer gene 1) and BRCA2 (BReast CAncer gene 2) are genes that produce proteins that help repair damaged DNA. Everyone has two copies of each of these genes—one copy inherited from each parent. BRCA1 and BRCA2 are sometimes called tumor suppressor genes because when they have certain changes, called harmful (or pathogenic) variants (or mutations), cancer can develop. About 13% of women in the general population will develop breast cancer sometime during their lives. By contrast, 55% - 72% of women who inherit a harmful BRCA1 variant and 45% - 69% of women who inherit a harmful BRCA2 variant will develop breast cancer by 70 - 80 years of age. The risk for any one woman depends on a number of factors, some of which have not been fully characterized. Please get a regular check-up for yourself or your partner. Reference

Mycobacterium leprae

Jan 30, World Leprosy Day. Today is World Leprosy Day. Hansen's disease (also known as leprosy) is an infection caused by slow-growing bacteria called Mycobacterium leprae. It can affect the nerves, skin, eyes, and lining of the nose (nasal mucosa). With early diagnosis and treatment, the disease can be cured. A skin biopsy is commonly used to diagnose leprosy. A skin biopsy involves removing a small section of skin for laboratory testing. If you have the symptoms of leprosy, a lepromin skin test may be ordered along with a biopsy to confirm both the presence and type of leprosy. Reference

Homo Sapiens SIRT6

Scientists recently found a gene variant in centenarians which appears to slow the ageing process. A rare variant of the SIRT6 gene increases DNA repair in human cells, and learning its effects could help to develop anti-ageing drugs. The study claims that SIRT6 is strongly linked to an increased lifespan in some human beings. Sirtuin 6 (SIRT6 or Sirt6) is a stress responsive protein deacetylase and mono-ADP ribosyltransferase enzyme encoded by the SIRT6 gene. In laboratory research, SIRT6 appears to function in multiple molecular pathways related to aging, including DNA repair, telomere maintenance, glycolysis and inflammation. Foods that contain Sirtuin activators include: green tea, turmeric, onions, kale, parsley, miso soup, tofu and other soy products, olives and extra-virgin olive oil, blackcurrants, capers, cocoa, dates, walnuts and turmeric. Read more here.

HLA DQ1 / DQ2

Three chromosomal mutations, known as HLA-DQ2, DQ1 and HLA-DQ8, are commonly associated with celiac disease. By definition, HLA (human leukocyte antigen) is a cellular protein which triggers an immune response. With celiac disease, aberrations in the HLA coding can cause the immune system to go haywire in the presence of gluten and attack cells of the small intestine. Despite the fact that HLA-DQ2 and HLA-DQ8 are both linked to this effect, having the mutation doesn't necessarily mean that you'll get the disease. Of those who do carry the mutation, only around 1 to 4 percent will go on to develop the disease in their adult years. With that being said, most celiac specialists will advise you and your family to be regularly monitored in the event one or more of you eventually become symptomatic. This is because the HLA mutations are passed from parent to child, with some children inheriting two copies of the mutation (one from each parent) while others only inheriting one. Those inheriting two are at greatest risk. Get your kids checked up at an early age to prevent escalation of disease. Read more here.