Research – Mohr-Tranebjaerg Syndrome

Mohr-Tranebjærg syndrome (MTS/DDON)

We are a self-help group for Mohr-Tranebjærg syndrome. On this page, we summarize current research findings – concisely, clearly, and with direct sources. If you have questions or would like to share your own experiences, please contact us using the contact form.

Where does the research stand?

Research is increasingly revealing how alterations in the TIMM8Agene affect nerve cells. The focus is on clarifying the biology of the disease and developing concrete treatment ideas.

MTS – what you see in the lab

In patients, mitochondrial function is impaired (including reduced ATP production and impaired maturation). Another protein, CHCHD2, is reduced; increasing its levels reverses these central defects in the model. 👉 Study 2025 (Cellular Models)

Mouse models lacking TIMM8A exhibit hearing and behavioral abnormalities and help to evaluate future treatments. 👉 Animal model study

New genetic findings

In 2025, new TIMM8A variants were described: Some affected individuals develop primarily movement disorders and iron deposits in the brain – even without early hearing loss. This shows that MTS can be more diverse than previously thought. 👉 Case reports 2025

Clinical experience

Cochlear implants (CI): Results vary widely. A thorough pre-operative evaluation is crucial. 👉 Review article on CI
Deep brain stimulation (DBS): Individual patients with severe dystonia benefited significantly; specific studies on MTS are lacking. 👉 Case report on DBS

Therapy research – what's on the horizon?
A gene therapy specifically targeting TIMM8A has not yet been registered as a clinical trial. Currently, research groups are investigating how to stabilize mitochondria and normalize disrupted protein import processes . CHCHD2 and related signaling pathways are considered promising in this regard.

Registries & Studies – How we can help together

The greatest progress is made when those affected share their data. Observations of disease progression ("natural history") and registries make the disease more visible and improve the chances of future studies.

Our anonymous registry (participation is welcome)

We want to publish an anonymous register to make the diversity of experiences visible – transparently, with minimal data collection, and on a voluntary basis. Anyone who wishes can send us their year of birth, approximate place of residence (country/region) , and genetic information (e.g., "TIMM8A c.XXXdup, Exon Y, Deletion/Insertion…"). This will allow us to show where people affected by MTS live. We may also be able to provide a current number of affected individuals. We review all submissions and manually . This ensures anonymity and prevents anyone from being identified.

👉 If you want to add or delete something later, you can manage your entry yourself. Simply go to the "Edit Register" page.