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Born to be Beautiful? GENOMICS INSIGHTS INTO HEALTHY SKIN

SkinDNA ™ revolutionizes the cosmetic industry with its genetic test to assess an individual's DNA; revealing their genetic propensity to intrinsic skin aging.
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Australian Advanced Aesthetics - 2010


Imagine if you can recommend a skincare product specifically suited to your client’s genetic make-up, or perform skin treatments using parameters determined by their DNA. Sounds like something from science fiction, but thanks to recent research in genomics that may not be too far in the future.

Today the field of cosmetic medicine is on the brink of a scientific revolution; thanks to recent advancements in field of Personal Genomics it’s now become possible to purchase a genetic test that will assess an individual’s DNA to reveal their genetic propensity to intrinsic ageing. This information can be used to empower individuals to make health-promoting lifestyle and dietary changes, and help skin professionals make more informed treatment choices.

The practise of cosmetic medicine has been marked by several great technological innovations in the last century. The 1958 invention of Laser optics in the field of physics for example, eventually transformed the face of cosmetic medicine. The use of Botulinum Toxin in Ophthalmology first in the 1960’s – little would we have known at the time – would go on to become a standard worldwide treatment for dynamic facial wrinkles. Like most innovations, each of these occurred in external scientific disciplines which eventually transferred into ours. This technological diffusion process, this time from the field of Personal Genomics, is yet again set to change the face cosmetic medicine.

Genetic testing use to be limited to the realms of forensic analysis and parental identity, but with the unravelling of the complete human genome in 2003 it’s been a lot more pervasive. In 2008 the winner of Time Magazine’s invention of the year wasn’t NASA’s Lunar Reconnaissance Orbiter, the Tesla Roadster (an all-electric sports car made by Tesla Motors), nor was it the Large Hadron Collider particle accelerator. It was a new Personal Genetics test being offered by 23andMe. It represented the true beginning of a personal genomics era, with several companies following suit.

In the Genes
In 1909, Danish botanist Wilhelm Johanssen coined the word ‘gene’ for the hereditary unit found on a chromosome. Nearly 50 years earlier, Gregor Mendel had characterised hereditary units as ‘factors’, or observable differences that were passed on from parent to child. Today, we know that a single gene consists of a unique sequence of DNA that provides the complete set of instructions to make a protein. Genes instruct cells to make sets of proteins at just the right times, and it is through this specificity that our ‘uniqueness’ arises.

The concept of uniqueness is important because even though the DNA of any two individuals is more than 99.9% identical, every one of us (except for identical twins) is genetically unique. The crucial difference lies in the remaining 0.1% – differences most typically represented as variations known as Single Nucleotide Polymorphism (or SNPs). Genomics research has determined that many SNPs can be associated with an increased risk of disease including Breast Cancer, Prostate Cancer, Parkinson’s disease, Melanoma and Diabetes – to name a few. But the influences of SNP’s don’t stop with disease; they determine most of our personal characteristics – everything from the colour of our hair to the shape of our nose, to the thickness of our hair and as recently discovered, the youth and vitality of our skin.

The Quest for Youth
Our discipline has long been focused on the maintenance of youth, or at least of a youthful-looking skin. This has important utility for our patients, because a youthful-looking skin is significant in interpersonal contact and in personal satisfaction. Recognising this we’ve made extensive efforts into researching and documenting the age-related changes of the skin: thinning, exaggerated expression lines, enlarged pores, wrinkling, pigmented lesions, patchy hypopigmentations, and actinic keratosis. What’s been missing is a proper understanding of the intrinsic molecular mechanisms involved

Answers from the human genome
That is where recent findings from the global SkinDNA™ research collaboration led by Australian pharmacogenomics company Wellbeing Genomics Pty Ltd comes in. The collaboration of geneticists, cosmetic physicians, skin scientists, and volunteer study participants commenced their work in 2006 with two principle objectives in mind: (1) To identify the genetic factors that contribute to age-related changes in the skin; and (2) to identify “actionable pathways” available for each of those genetic pathways in order to “help each and every individual worldwide preserve a more youthful-looking skin”.

The researchers profiled the action of 6,347 genes and – using genome-wide association studies – they discovered more than 200 abnormal gene traits in the form of Single Nucleotide Polymorphisms (SNPs) implicated in the health and wellbeing of our skin. Most significant was the prevalence of some of these SNP’s and the effect they had on the skin. Whilst many of these findings are due to be outlined in a forthcoming paper, we can reveal some of the results:

30% of the adult population were found to have a specific 2G2G polymorphism in the Matrix Metalloproteinase-1 gene increasing their predisposition to excessive collagen breakdown;
Polymorphisms in the ERC22 gene having a population prevalence of 27% was associated with increased sensitivity to sunlight and heightened sunlight-induced skin damage.

The 5 cellular ageing processes
The genes tested were catalogued according to the structural, functional and metabolic effects they had on the skin. Together with the knowledge of the molecular events that underlie the ageing process, the researchers were able to identify five cellular processes involved in skin ageing. These can be described broadly as: Collagen Breakdown, Photo Defense, Oxidation, Inflammation and Glycation – each one of which is controlled by a specific group of genes. A Polymorphism in any one of these genes changes its molecular activity and intervenes with the skin’s normal ageing process.

1. Collagen Breakdown
Collagen is an important element of human skin; in fact it is the principle structural protein holding skin together. Representing 75% of the skin’s dry weight, the quantity and quality of Collagen plays a major role in the skin’s appearance. The genes in this category are involved in slowing the breakdown and degradation of Collagen Fibers found in the extracellular matrix of human tissue. Key variations in our genes can identify if the synthesis and degradation process of Collagen inclined to be in balance, or if the predisposition to collagen degradation predominates – which can result in premature sagging and wrinkling of the skin.

2. Photo Defence
Causing premature skin aging and a host of other profound changes to the skin, repeated exposure to ultraviolet light (UV radiation) from the sun accounts for nearly 90% of symptoms of premature skin aging, skin damage and skin cancer. Genetics were shown to play an important role in determining how well our skin can naturally cope under the strains of the sun.

3. Oxidation
The Oxidation process starts with Free Radicals. Free radicals are highly reactive short lived molecules that can damage virtually any molecule in our body – including the important cellular structures found in the body’s largest organ - the skin. This kind of free radical damage leads to the generation of even more free radicals! It’s a chain reaction that can wreak havoc in every layer of the skin – including the Hypodermis, Dermis and the particularly vulnerable epidermis. This sort of cellular destruction in any one of the skin’s layers can lead to a dull, lifeless, aged complexion. It’s not all bad news however, because our bodies have been built with a natural defence: Internal Antioxidants. The activity of these internal antioxidants is determined in large part by their mediating genes, and their activity levels were found to vary substantially.

4. Inflammation
Inflammation is the skin’s first line of defense against foreign invaders such as bacteria and viruses. Inflammation also initiates the tissues healing processes and limits the damage to skin cells caused by everyday chemicals and pollutants. Excessive inflammation is one of the most common themes in early onset skin aging. While it is a helpful response in the short term, if inflammation continues on-going, it can play a very harmful role. Often subtle, the signs include skin sensitivity, redness and irritation.

5. Glycation
Glycation causes the skin proteins (like collagen and elastin) to lose their ability to function normally; Glycation is now well recognised and heavily implicated in accelerated skin aging. Advanced Glycation End Products (A.G.Es) are the end result of a glucose-driven process known as Glycation. Glycation occurs when excess bodily glucose molecules link to the skin’s Collagen and Elastin fibers. This cross-linking can form chemical bridges between these proteins. Glycated fibres can become rigid, less elastic and have reduced regenerative ability, which can lead to damage such as laxity, cracking and thinning skin.

Current and future implications
The implications of these findings are vast. Not only has the SkinDNA™ allowed physicians and skin professionals to incorporate a cutting-edge genomics test into the care of its patients, it has also provided the tools to pave the way for new strategies for diagnosis, treatment and prevention plans. As the skin’s ageing mechanisms are further identified, and further insights into the underlying processes of skin ageing emerge, better strategies to prevent the undesirable effects of skin ageing should follow. In the near future, look out for new gene and cell therapies to repair skin damage and to optimise skin health as well as personalised skincare and skin treatment programs tailored to an our very own DNA
By R.G.