maternally inherited diabetes and deafness.

Question 1

What is the condition associated with maternally inherited diabetes and deafness?

Answer 1

MIDD/MELAS due to MT-TL1 mitochondrial tRNA-Leu pathogenic variant

MIDD stands for Maternally Inherited Diabetes and Deafness, while MELAS refers to Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes.

Question 2

What are the manifestations of MIDD/MELAS?

Answer 2

Lactic acidosis, strokelike episodes

These manifestations are part of the clinical spectrum of the disease.

Question 3

How does organ involvement in MIDD/MELAS vary?

Answer 3

Varied by heteroplasmy; progressive over time

Heteroplasmy refers to the presence of multiple mitochondrial DNA variants within a cell, influencing disease severity.

Question 4

What is the only effective treatment option for MIDD/MELAS?

Answer 4

Insulin therapy

While insulin therapy can manage diabetes, mitochondrial dysfunction is irreversible.

Question 5

Why are lifestyle modifications ineffective in treating MIDD/MELAS?

Answer 5

Due to irreversible mitochondrial defect

Mitochondrial defects cannot be corrected through lifestyle changes.

Question 6

What is the reason metformin is contraindicated in MIDD/MELAS?

Answer 6

May worsen metabolic acidosis

Metformin is generally used for type 2 diabetes but can exacerbate lactic acidosis.

Question 7

Why are sulfonylureas ineffective in MIDD/MELAS?

Answer 7

Due to mitochondrial dysfunction

Sulfonylureas work by stimulating insulin release, which is not effective in this context.

Question 8

What is the efficacy of GLP-1 receptor agonists in MIDD/MELAS?

Answer 8

Ineffective, no benefit shown

GLP-1 receptor agonists are used for diabetes management but do not address the underlying mitochondrial issues.