Genetic Key to Short Stature: Loss of Particular Protein Causes Growth Defects in Bone Development

Measuring Child Height Growth

A mutation in the TMCO3 gene, responsible for bone growth, has been linked to short stature in a new study. Scientists confirmed the mutation’s effects by analyzing a mouse model, shedding light on the gene’s crucial role in growth.

Scientists have found a mutation in the TMCO3 gene related to short stature in two sisters. The research demonstrated the gene’s role in bone growth and confirmed the mutation’s effects through a mouse model. Conducted at the University Medical Center Hamburg-Eppendorf, the study emphasizes the importance of ion and pH balance in growth.

Through next-generation sequencing, investigators have identified a mutation in the TMCO3 gene in two sisters with short stature. The research, published in the Journal of Bone and Mineral Research, has shed new light on the function of the TMCO3 gene, specifically in the context of bone growth.

Role of TMCO3 in Bone Growth

The research also revealed that the TMCO3 protein is expressed by chondrocytes, cells responsible for bone growth. Furthermore, it has been discovered that TMCO3 regulates the expression of two other proteins known to control bone growth (parathyroid hormone-related protein and Indian hedgehog). TMCO3 appears to transport protons in exchange for potassium across a protein packaging organelle within cells.

Confirmation Through Mouse Model

Scientists confirmed that the mutation in TMCO3 was responsible for the sisters’ short stature by analyzing a mouse model lacking the gene. This analysis showed that the mice had shortened bones, thereby strengthening the link between the gene and this specific growth anomaly.

Collaborative Effort and Implications

“This paper is the result of a great collaboration between the Institute of Human Genetics and the Department of Osteology and Biomechanics, both located at the University Medical Center Hamburg-Eppendorf, in Germany. It shows the importance of ion and pH homeostasis in organismal growth,” said corresponding author Kerstin Kutsche, PhD.

Reference: “TMCO3, a Putative K+:Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and Humans” by Tess Holling, Laura Brylka, Tasja Scholz, Tatjana Bierhals, Theresia Herget, Peter Meinecke, Thorsten Schinke, Ralf Oheim and Kerstin Kutsche, 9 August 2023, Journal of Bone and Mineral Research.
DOI: 10.1002/jbmr.4827

3 Comments on "Genetic Key to Short Stature: Loss of Particular Protein Causes Growth Defects in Bone Development"

  1. EarlierTheBetter | August 12, 2023 at 4:18 pm | Reply

    The type of Research that has to be done to impress laymen in Genetics is like a) Creating monkeys with short tails (There are already some monkey species with finger sized tails, just like langhurs with 2 feet long tails exist also), Creating Rabbits of the size of mice (not to be released to outside the Lab, of course) etc., Eggs of Various Birds are within our hands and so many alterations in them is a possibility unlike with mammals that are enclosed within the uterus. Working on Frogs and Lizards etc., will not be useful that much to apply to humans. Just this week I read that Lizards always can regenerate only tails that are lost. Now they are made to regenerate lost limbs also. So, it means that one day humans without limbs will be able to regenerate them !

  2. EarlierTheBetter | August 12, 2023 at 4:42 pm | Reply

    Genetics is such a great subject. Unfortunately, nothing much has been done in this field. Look at monkeys. They have 4 Hands. Look at Dogs, They have 4 useless feet. They cannot even scratch their backs. Yes, We cannot mess up with nature. But, important work has to be done by the labs and then not release into the nature. Dogs with 4 Hands like Monkeys will be a great achievement. Always stopping at so called Creator is totally wrong. We have so many machines, robots etc…but not Dogs with 4 Hands like that of Monkeys. What is wrong in doing such experiment? We will learn so much about Hands from that !

    • EarlierTheBetter | August 13, 2023 at 2:53 pm | Reply

      Compare Sugarcane in this, “Monkey KaKa and family enjoy super delicious sweet cane” and “Why Sugarcane Farmers in Andhra Pradesh are Unhappy?”. The former one on Youtube.

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