Media portrayal:
Scientific interpretation:

Gene linked to inherited Parkinson’s identified

Original article: Identification of TMEM230 mutations in familial Parkinson’s disease, Nature Genetics: June 6, 2016

The takeaway

A gene called TMEM230 is associated with familial cases of Parkinson’s disease, which comprise between 5 and 10 percent of all Parkinson’s cases.

Why is it important?

A better understanding of the disease’s genetic basis has implications for all cases of Parkinson’s, inherited (familial) and sporadic. In fact, the first gene linked to Parkinson’s—SNCA, which codes for alpha-synuclein—was identified in an Italian family, many of whose members had the disease.  It is now known that alpha-synuclein plays an important role in all Parkinson’s cases.



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“In total, inherited cases of Parkinson’s disease account for fewer than 10 percent of all cases. However, although each individual genetic cause of Parkinson’s disease is rare, identifying novel genes is important because it helps us understand underlying molecular mechanisms that might be relevant not only to inherited cases but to non-inherited (also known as sporadic) cases as well.” Dr. Patrik Brundin


TMEM230 codes for a protein (a molecule that carries out the gene’s instructions) that aids cells in removing debris and other potential harmful molecules. Other recent work has indicated that Parkinson’s may in part be due to breakdowns in these cellular housekeeping processes, with allows abnormal alpha-synuclein to accumulate, causing inflammation and eventually cell damage and death.

The details

The researchers studied a North American family for more than 20 years. Of its 81 members, 15 had Parkinson’s disease. Using in-depth genetic methods and postmortem analysis, the team honed in on TMEM230, a specific variant of which was present in all 13 family members with Parkinson’s who supplied DNA for analysis.

They performed additional analysis on hundreds of other DNA samples from familial and sporadic Parkinson’s cases and, again, identified changes in TMEM230 in several familial samples.

Next steps

A study published in 2017 investigated the TMEM230 in a general Caucasian population of 1450 people with Parkinson’s and 535 controls from the International Parkinson’s Disease Consortium database. This study did not find a genetic association of TMEM230 in this database and therefore further evaluation of genetic data from different populations is needed to understand the genetic role of TMEM230 in Parkinson’s.

Related work

There are multiple clinical trials aimed at trying to understand different genetic aspects of Parkinson’s. For example the ‘Parkinson’s Families Project’(PFP) in the UK is studying the genetic makeup of family members both with and without Parkinson’s (as they share a common genetic background) to identify new Parkinson’s-related gene alterations.

There are also trials which are specifically targeting genetic aspects of Parkinson’s to test potential therapies, for example the ‘Ambroxol in Disease Modification in Parkinson Disease’ (AiM-PD) trial. This trial is underway in London and has recruited 20 people with Parkinson’s who have a GBA gene mutation. GBA mutations cause the naturally occurring enzyme glucocerebrosidase to stop working properly, which can lead to build-up of alpha-synuclein. In pre-clinical research, Ambroxol has been shown to improve the function of neurons, and helps reduce the build-up of alpha-synuclein.

If you are interested in taking part in a clinical trial, local studies can be found on Fox Trial Finder.

Original article: Deng HX, Shi Y, Yang Y, Ahmeti KB, Miller N, Huang C, Cheng L, Zhai H, Deng S, Nuytemans K, Crobett CJ, Kim MJ, Deng H, Tang B, Yang Z, Xu Y, Chan P, Huang B, Goe XP, Song Z, Liu Z, Fecto F, Siddique N, Foroud T, Jankovic J, Ghetti B, Nicholson DA, Krainc D, Melen Om Vance JM, Pericak-Vance MA, Ma YC, Rajput AH, Siddique T. June 6, 2016. Identification of TMEM230 mutations in familial Parkinson’s disease. Nat Genet 48:733–739.

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