23andMe Holding Co. (Nasdaq: ME) (23andMe), a leading genetic
health and biopharmaceutical company, with support from The Michael
J. Fox Foundation for Parkinson’s Research, conducted the world’s
largest study on LRRK2 G2019S and uncovered new insights into the
variant. 23andMe launched the Parkinson’s Impact Project (PIP) in
2018 to better understand which LRRK2 G2019S carriers’ are at
greatest risk of developing Parkinson’s disease. The 3.5-year
longitudinal study included 1,286 genotyped LRRK2 G2019S carriers
and 109,154 non-carriers. Findings from the study, published today
in the June 2024 issue of Brain, illustrate how DNA weaves together
health, ancestry, and history.
The LRRK2 G2019S variant
Only 10 percent of Parkinson’s disease cases have a known
genetic cause; the remaining 90 percent have idiopathic Parkinson’s
disease, where the cause is unknown. Of the 10 percent of PD cases
known to be related to a high risk variant, only 5 percent have the
Leucine Rich Repeat Kinase 2 Glycine to Serine variant, also known
as LRRK2 G2019S. Yet, the LRRK2 G2019S variant is the most common
pathogenic variant linked to Parkinson’s disease. 23andMe’s study
showed that people with the G2019S variant are seven times more
likely to develop Parkinson’s than people without the variant. Yet,
not everyone with this LRRK2 variant will develop Parkinson’s
disease.
LRRK2-associated Parkinson’s compared to Parkinson’s
without the variant
Parkinson’s disease is associated with the degeneration of
nerves in the brain and body, which produces different symptoms
according to the pattern of nerve death.
People who develop Parkinson’s disease who have the LRRK2 G2019S
variant have milder symptoms than those with Parkinson's who do not
have the LRRK2 variant. LRRK2-associated Parkinson's tend to have a
slower progression of the disease. The data also suggests that in
LRRK2 Parkinson’s disease, the areas outside the motor control
regions are spared from the neurodegenerative process. Conversely,
Parkinson’s carriers without the variant report significantly
higher rates of cognitive decline, memory deficits, hyposmia
(decreased sense of smell), and REM sleep behavior disorder (RBD)
symptoms, which occur at lower rates in Parkinson’s disease
patients who have the LRRK2 variant.
Acting out dreams (RBD) and poor sense of smell are common
symptoms that can be an early warning sign of neurodegeneration in
the brain. These symptoms may indicate the onset of idiopathic
Parkinson’s disease, sometimes decades before the typical motor
symptoms like tremor become obvious. However, people with
LRRK2-associated Parkinson’s are less likely to experience RBD and
loss of smell.
“Because people with the LRRK2 G2019S variant are less likely to
have sleep and smell abnormalities, the scientific and medical
communities might be underestimating the risk of Parkinson’s
disease in LRRK2 carriers,” said Lucy Norcliffe-Kaufmann, Ph.D.,
Principal Scientist, Parkinson’s Disease Research at 23andMe.
“Existing criteria may lack sensitivity for early detection among
LRRK2 carriers. If we are only looking for smell and sleep
problems, which don’t appear as often in the early stages of
LRRK2-PD, we may be miscalculating a person’s risk, because for
some reason those areas of the brain are more resistant to
neurodegeneration”
LRRK2 variant unifies different populations
The LRRK2 G2019S genetic variant originally emerged from North
Africa and passed through the early Jewish settlers in that part of
the world. Scientists have long been aware of high rates of the
LRRK2 variant in North African and Ashkenazi Jewish
populations.
However, novel ancestry findings from 23andMe’s study revealed
hotspots in people from Mexico, Cuba, Puerto Rico and Brazil where
the carrier rate of the LRRK2 G2019S variant was much higher than
expected. The new Latin Caribbean connection historically points to
migration of the Jewish population from Iberia to the Americas,
after fleeing the Inquisitions. The movement of populations
throughout the Mediterranean Basin brought with it the LRRK2 G2019S
variant. Once the variant became established in the Jewish
community, it spread to other regions of the world. In particular,
it appears to have been brought to the Latin Caribbean during
transatlantic voyages in the late 15th century, and there it
created new founder populations. “By understanding the genetic
ancestry of LRRK2 carriers, we can build community among these
people,” said Dr. Norcliffe-Kaufmann.
23andMe’s ongoing Parkinson’s research
23andMe’s Parkinson’s Impact Project (PIP) has helped scientists
better understand the progression of Parkinson’s disease as well as
how LRRK2 Parkinson’s differs from idiopathic Parkinson’s. Launched
in 2018 to understand LRRK2 G2019S carriers’ experience with
Parkinson’s disease, the 3.5-year longitudinal prospective
observational study included more than 110K consented research
participants (with nearly 1,300 genotyped LRRK2 G2019S carriers and
more than 109K non-carriers). Ancestry composition from more than
11K additional consented research participants in 23andMe’s
database who have the LRRK2 G2019S variant was also included.
23andMe’s cohort that participated in the LRRK2 study is three
times bigger than any other study published.
The study participants took surveys every six months for 3.5
years. Sixty-six percent of participants completed at least one
follow-up, and 42 percent of individuals with Parkinson’s had at
least two years of follow-up. Scientists at 23andMe built anatomic
models of brain degeneration from survey answers, looked at
polygenic risk scores (PRS), and evaluated genetic ancestry.
This study is one of many aspects of 23andMe’s long-standing
commitment to studying Parkinson’s disease. 23andMe researchers
have studied the genetic underpinnings of Parkinson’s since 2009.
These studies have also identified almost 100 new genetic variants
associated with Parkinson's. It allows 23andMe scientists and
collaborators to explore what role these variants play in the
progression of Parkinson’s disease.
The Michael J. Fox Foundation, the world's largest nonprofit
funder of Parkinson's research, funded the postdoctoral program.
Through the program, Matthew Kmiecik, Ph.D., a postdoctoral fellow
at 23andMe, collaborated with a group of internal scientists to
dive deeply into the analysis of the PIP study data. “The Michael
J. Fox Foundation postdoctoral fellowship has enabled me to not
only grow as a scientist, but also advance our understanding of
LRRK2 Parkinson’s disease,” said Dr. Kmiecik.
The resulting study just published in Brain is 23andMe’s first
paper to utilize a longitudinal prospective data collection. Read
the study here.
About 23andMe
23andMe is a genetics-led consumer healthcare and
biopharmaceutical company empowering a healthier future. For more
information, please visit www.23andMe.com.
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