Interested in the potential for super humans? Meet Liam Hoekstra!

Liam Hoekstra a young man with Myostatin gene mutations

  • At the age of 4 months, he could lay on the floor, hold his head up, and hold his upper body up with his arms.

  • At the age of 5 months, he was already walking including upright up the stairs. At the age of 6 months, he could walk up and down the stairs on his own.

  • At the age of 1 year, he could do chin ups, which is unheard of.

  • At the age of 18 months, he was always moving the family furniture around in the living room.

Liam had unbelievable strength and very little body fat, and others started to notice this. His adopted parents decided to ask a doctor for some advice. Doctors could not conduct a strength test on Liam until he was 3 years old, but when they did they made an interesting discovery. Liam was found to have 40% more muscle than others his age and, because he was so active and always burning calories, he had to eat more often than other toddlers his age. At 3 years old, he could do as many sit ups as a 6-year-old. Using a hand-held device to see how much pressure Liam could pull, he was able to shift 13.2 Ib, whereas the equivalent toddler his age could shift only 4.4 Ib. So Liam was as strong as a 7-year-old.

When Liam and an equivalent toddler were asked to hang from a bar, the other toddler managed seven seconds, whereas Liam got bored and let go at 13 seconds. The study concluded that Liam was stronger than 85% of most 6-year-olds. So for the medical reasoning, and this is the neat bit! Liam was found to have a deficiency in the protein myostatin.

What is Myostatin?

Myostatin (also known as growth differentiation factor 8, abbreviated GDF-8) is a protein that in humans is encoded by the MSTN gene. Myostatin is a secreted growth differentiation factor that is a member of the TGF beta-protein family that inhibits muscle differentiation and growth in the process known as myogenesis. Myostatin is produced primarily in skeletal muscle cells, circulates in the blood, and acts on muscle tissue by binding a cell-bound receptor called the activin type-II receptor.

A deficiency in myostatin in some animals leads to double muscling, and massively increased muscle mass. Liam had larger-than-normal muscles, and was not able to store body fat particularly well. So you could say that this young man has the potential to be super human. 

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Hercules may have had myostatin mutations

Hercules may have had myostatin mutations

In the literature, there are not that many reported cases of mutations in both copies of the myostatin gene, but another potentially famous example was the exceptionally strong child who was described more than 2,500 years ago in Greek mythology, in the story about Hercules. As an infant, Hercules strangled a snake in each hand when the goddess Hera tried to kill him. His legendary strength was obvious from the time of his birth, and it was not the result of any exercise program.

Piedmontese cattle with myostatin deficiency

Piedmontese cattle with myostatin deficiency

If we look at animals, a great example is the Piedmontese cattle having one or two copies of the inactive myostatin gene. When myostatin is inactive, as it is with Piedmontese cattle, it no longer prevents muscle development, which is what allows for the condition sometimes referred to as 'double muscling'. From a food point of view, this is desired, as it gives a higher lean-to-fat ratio as well as a less marbled with less connective tissue cut of red meat than cattle with the 'active' version of the gene.

Normal Whippet left and a Bull Whippet right

Normal Whippet left and a Bull Whippet right

In the picture below, you will see two whippets. The smaller of the dogs is a champion racing whippet. The larger of the dogs is not. They are exactly the same breed of dog, but the one difference is that the bigger of the dogs is homozygous for a two-pair deletion in the myostatin gene, whereas the smaller, champion dog, is heterozygous for the two-pair deletion. It gets more interesting!

They found that when they genetically analysed champion racing whippets, many of them were heterozygous for this deletion—that is they had one working copy of the myostatin gene and one copy that created a truncated and dysfunctional version of myostatin, so would therefore be a little more muscular than the average whippet, but nothing like the fully mutated one. We are extremely excited for the introduction of myostatin testing to our gene test, and even more intrigued by the discoveries we might make!

Written by Dr. Dan Reardon

Thursday, January 2, 2014