v-ATPase Data: A brief overview
Unraveling the Complexity of v-ATPase
In our community we all have something in common: in a large protein complex named vacuolar ATPase (v-ATPase) that regulates pH in various cellular organelles and vesicles, our kids have gene mutations, some of those with which seems to have similar clinical presentations, such as ATP6V0A1, ATP6V0A2, ATP6V1B2, and potentially others.
(Data from November 2024)
% of individuals affected by different genetic mutations within the v-ATPase Alliance
Key Observations:
- ATP6V1A: This gene stands out with a significant 61% of individuals affected. It appears to be the most prevalent mutation within the group.
- ATP6V0A1: This gene accounts for 20.3% of affected individuals, making it the second most common mutation.
- ATP6V0C: This gene is responsible for affecting 13.6% of individuals, placing it third in terms of prevalence.
- ATP6V1B2 and ATP6ap2: These genes have a relatively lower impact, affecting 3.4% and 1.7% of individuals, respectively.
Overall, this pie chart provides a visual representation of the distribution of genetic mutations within the v-ATPase Alliance. It highlights the significant role of ATP6V1A in affecting a majority of individuals in this group.
Want to know more about how v-ATPase affects people?
Check out: v-ATPase and Human Diseases
% of gender distribution within the v-ATPase Alliance
Key Observations:
- Males: Represent the largest portion, accounting for 47.5% of the group.
- Females: Constitute 44.1% of the group.
- Not Disclosed (ND): 8.5% of individuals did not disclose their gender.
Want to meet some of our children?
Check out this link
Patient locations of the v-ATPase Alliance
Overall:
- The map shows the distribution of patients across various countries.
Specific Locations:
Here's the breakdown of patient locations based on the image:
- Argentina: 1
- Australia: 3
- Belgium: 1
- Canada: 2
- Colombia: 2
- Denmark: 1
- England: 2
- Finland: 1
- France: 4
- Georgia: 1
- Germany: 2
- Ireland: 1
- Italy: 2
- Spain: 2
- Ukraine: 1
- United Arab Emirates: 2
- USA: 28
- ND (Not Disclosed): 3
Total: 59 Cases
Overall, this map gives a visual representation of the global reach of the v-ATPase Alliance, highlighting the countries with the highest concentration of patients.
% age distribution of patients within the v-ATPase Alliance
Key Observations:
- 4-7 years: This age group has the highest representation, accounting for 30.5% of the patients.
- 0-3 years: The second largest group, representing 16.9% of the patients.
- 8-11 years: This age group comprises 13.6% of the patients.
- 12-17 years: Also at 13.6%, this age group shares the same proportion as the 8-11 year-olds.
- >18 years: This group represents 6.8% of the patients.
- Not Disclosed (ND): 18.6% of the patients did not disclose their age.
Overall, the chart indicates that a significant portion of the v-ATPase Alliance consists of young children, with the 4-7 age group having the highest representation.
Prevalence of epilepsy within the v-ATPase Alliance
Key Observations:
- Epilepsy (Present or Past): This category dominates the chart, representing a substantial 79.7% of the individuals in the alliance.
- No Epilepsy: This group accounts for 11.9% of the individuals.
- Not Reported: 8.5% of the individuals did not report their epilepsy status.
Overall, the chart highlights that epilepsy is a significant health concern within the v-ATPase Alliance, with a majority of individuals either currently experiencing or having experienced epilepsy
Read more about Epilepsy in this article:
Navigating the Genetic Landscape of Epilepsy
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Monthly Meet up
Let's take the time to check in with each other and move forward together, united!
Register to participate in the next v-ATPase Community meetup happening on the 6th.
Starts at:
12 PM - Texas, Central time
1 PM - New York, Eastern Time
6 PM - London, GMT
7 PM - Central Europe