Mitochondrial neurogastrointestinal encephalopathy (MNGIE) in a South Indian family with two affected siblings

Area of Science:

• Genetics and Neurology
• Mitochondrial Biology
• Gastroenterology

Background:

• Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare, autosomal recessive disorder.
• It is characterized by progressive neurogastrointestinal dysfunction and multisystemic involvement.
• Previous descriptions of MNGIE have been limited globally.

Purpose of the Study:

• To report the first documented cases of MNGIE in India.
• To characterize the clinical and pathological features of MNGIE in a South Indian family.
• To contribute to the understanding of MNGIE's genetic and clinical spectrum.

Main Methods:

• Clinical assessment of affected family members.
• Biochemical analysis including arterial blood lactate levels.
• Histopathological examination of muscle biopsy for ragged red fibres.

Main Results:

• Two living members of a South Indian family presented with progressive neurogastrointestinal dysmotility.
• Elevated arterial blood lactate and ragged red fibres in muscle biopsy indicated mitochondrial dysfunction.
• The findings are consistent with autosomal recessive inheritance of MNGIE.

Conclusions:

• This report represents the first description of MNGIE in India.
• The study confirms MNGIE as an inherited multisystem mitochondrial disease affecting South Asian populations.
• Further research is warranted to understand the prevalence and specific genetic factors of MNGIE in India.